nsv6127770
- Organism: Homo sapiens
- Study:nstd186 (NCBI Curated Common Structural Variants)
- Variant Type:copy number variation
- Method Type:Curated
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:291
- Description:nsv5524271 from Byrska-Bishop et. al 2021. 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: 143 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 24 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 143 SVs from 37 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6127770 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 39,766,920 | 39,767,210 |
| nsv6127770 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_009646206.1 | Chr19|NW_0 09646206.1 | 26,796 | 27,086 |
| nsv6127770 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 40,257,560 | 40,257,850 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17959254 | deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17959254 | Remapped | Perfect | NW_009646206.1:g.2 6796_27086del | GRCh38.p12 | Second Pass | NW_009646206.1 | Chr19|NW_0 09646206.1 | 26,796 | 27,086 |
| nssv17959254 | Remapped | Perfect | NC_000019.10:g.397 66920_39767210del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 39,766,920 | 39,767,210 |
| nssv17959254 | Submitted genomic | NC_000019.9:g.4025 7560_40257850del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 40,257,560 | 40,257,850 |
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) |
|---|---|---|---|
| nssv17959254 | 0.182 | 1167 | 6404 |