nsv4430447
- Organism: Homo sapiens
- Study:nstd174 (DGV Gold Standard)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1,264
- DGV: gssvL49672
- dbVar: essv64062
- dbVar: nssv872979
- dbVar: nssv872982
- dbVar: nssv872997
- dbVar: nssv872998
- dbVar: nssv873005
- dbVar: nssv873015
- dbVar: nssv873022
- dbVar: nssv873025
- dbVar: nssv873029
- dbVar: nssv873035
- dbVar: nssv873036
- dbVar: nssv873037
- dbVar: nssv873040
- dbVar: nssv873051
- dbVar: nssv873057
- dbVar: nssv873059
- dbVar: nssv873060
- Overlapping Genes
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 286 SVs from 35 studies. See in: genome view
Overlapping variant regions from other studies: 125 SVs from 19 studies. See in: genome view
Overlapping variant regions from other studies: 113 SVs from 13 studies. See in: genome view
Overlapping variant regions from other studies: 284 SVs from 35 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv4430447 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 46,771,072 | 46,771,088 | 46,772,335 | 46,772,335 |
nsv4430447 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 1,290,484 | 1,290,484 | 1,291,742 | 1,291,742 |
nsv4430447 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_167251.2 | Chr17|NT_1 67251.2 | 1,756,951 | 1,756,951 | 1,758,209 | 1,758,209 |
nsv4430447 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 44,848,438 | 44,848,454 | 44,849,701 | 44,849,701 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv15725037 | copy number loss | Multiple | Multiple |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv15725037 | Remapped | Good | NT_187663.1:g.(129 0484_1290484)_(129 1742_1291742)del | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 1,290,484 | 1,290,484 | 1,291,742 | 1,291,742 |
nssv15725037 | Remapped | Good | NT_167251.2:g.(175 6951_1756951)_(175 8209_1758209)del | GRCh38.p12 | Second Pass | NT_167251.2 | Chr17|NT_1 67251.2 | 1,756,951 | 1,756,951 | 1,758,209 | 1,758,209 |
nssv15725037 | Remapped | Perfect | NC_000017.11:g.(46 771072_46771088)_( 46772335_46772335) del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,771,072 | 46,771,088 | 46,772,335 | 46,772,335 |
nssv15725037 | Submitted genomic | NC_000017.10:g.(44 848438_44848454)_( 44849701_44849701) del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 44,848,438 | 44,848,454 | 44,849,701 | 44,849,701 |