nsv4804757
- Organism: Homo sapiens
- Study:nstd200 (Abel et al. 2020)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:2,136
- Publication(s):Abel et al. 2020
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: 1116 SVs from 80 studies. See in: genome view
Overlapping variant regions from other studies: 661 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 661 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 1116 SVs from 80 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4804757 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 242,020,672 (-3, +3) | 242,022,190 (+9) |
| nsv4804757 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187647.1 | Chr2|NT_18 7647.1 | 63,768 (-3, +3) | 65,903 (+9) |
| nsv4804757 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187523.1 | Chr2|NT_18 7523.1 | 64,742 (-3, +3) | 66,260 (+9) |
| nsv4804757 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 242,962,823 (-3, +3) | 242,964,341 (+9) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16391729 | duplication | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16391729 | Remapped | Pass | NT_187647.1:g.(637 65_63771)_(?_65912 )dup | GRCh38.p12 | Second Pass | NT_187647.1 | Chr2|NT_18 7647.1 | 63,768 (-3, +3) | 65,903 (+9) |
| nssv16391729 | Remapped | Perfect | NT_187523.1:g.(647 39_64745)_(?_66269 )dup | GRCh38.p12 | Second Pass | NT_187523.1 | Chr2|NT_18 7523.1 | 64,742 (-3, +3) | 66,260 (+9) |
| nssv16391729 | Remapped | Perfect | NC_000002.12:g.(24 2020669_242020675) _(?_242022199)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 242,020,672 (-3, +3) | 242,022,190 (+9) |
| nssv16391729 | Submitted genomic | NC_000002.11:g.(24 2962820_242962826) _(?_242964350)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 242,962,823 (-3, +3) | 242,964,341 (+9) |
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) |
|---|---|---|---|
| nssv16391729 | <0.001 | 2 | 16828 |