nsv4637365
- Organism: Homo sapiens
- Study:nstd186 (NCBI Curated Common Structural Variants)
- Variant Type:copy number variation
- Method Type:Curated
- Submitted on:GRCh37
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:113
- Description:nsv4120066 from gnomAD Structural Variants and nsv4805569 from Abel et. al 2020. For a full list of variants now included in nstd186, refer to the mapping file provided here.
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: 101 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 101 SVs from 20 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4637365 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 66,174,155 | 66,174,267 |
| nsv4637365 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 65,469,983 | 65,470,095 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16160978 | duplication | Curated | Curated |
| nssv16884380 | duplication | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16160978 | Remapped | Perfect | NC_000005.10:g.661 74155_66174267dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 66,174,155 | 66,174,267 |
| nssv16884380 | Remapped | Perfect | NC_000005.10:g.661 74155_66174267dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 66,174,155 | 66,174,267 |
| nssv16160978 | Submitted genomic | NC_000005.9:g.6546 9983_65470095dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 65,469,983 | 65,470,095 | ||
| nssv16884380 | Submitted genomic | NC_000005.9:g.6546 9983_65470095dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 65,469,983 | 65,470,095 |
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) |
|---|---|---|---|
| nssv16160978 | 0.018 | 390 | 21588 |
| nssv16884380 | 0.022 | 372 | 16834 |