nsv4627843
- Organism: Homo sapiens
- Study:nstd183 (DECIPHER Consensus CNVs)
- Variant Type:copy number variation
- Method Type:Curated
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1,248
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 | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4627843 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 46,771,088 | 46,772,335 |
nsv4627843 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 1,290,500 | 1,291,742 |
nsv4627843 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_167251.2 | Chr17|NT_1 67251.2 | 1,756,967 | 1,758,209 |
nsv4627843 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 44,848,454 | 44,849,701 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16141400 | deletion | Curated | Curated |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16141400 | Remapped | Good | NT_187663.1:g.(?_1 290500)_(1291742_? )del | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 1,290,500 | 1,291,742 |
nssv16141400 | Remapped | Good | NT_167251.2:g.(?_1 756967)_(1758209_? )del | GRCh38.p12 | Second Pass | NT_167251.2 | Chr17|NT_1 67251.2 | 1,756,967 | 1,758,209 |
nssv16141400 | Remapped | Perfect | NC_000017.11:g.(?_ 46771088)_(4677233 5_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,771,088 | 46,772,335 |
nssv16141400 | Submitted genomic | NC_000017.10:g.(?_ 44848454)_(4484970 1_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 44,848,454 | 44,849,701 |
No validation data were submitted for this variant
No clinical assertion data were submitted for this variant
Genotype Information
Variant Call ID | Allele Frequency (AF) | Allele Count (AC) | Allele Number (AN) |
---|---|---|---|
nssv16141400 | 0.025 | 1 | 40 |