nsv5390679
- Organism: Homo sapiens
- Study:nstd186 (NCBI Curated Common Structural Variants)
- Variant Type:copy number variation
- Method Type:Curated
- Submitted on:GRCh37
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: No
- Region Size:146
- Description:nsv4839282 from Abel et. al 2020 and nsv5503842 from Byrska-Bishop et. al 2021. For a full list of variants now included in nstd186, refer to the mapping file provided here.
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 103 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 103 SVs from 33 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5390679 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 70,813,492 | 70,813,637 |
| nsv5390679 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 71,280,209 | 71,280,354 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16867593 | duplication | Curated | Curated |
| nssv16881360 | duplication | Curated | Curated |
| nssv17963657 | duplication | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16867593 | Remapped | Perfect | NC_000014.9:g.7081 3492_70813637dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 70,813,492 | 70,813,637 |
| nssv16881360 | Remapped | Perfect | NC_000014.9:g.7081 3492_70813637dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 70,813,492 | 70,813,637 |
| nssv17963657 | Remapped | Perfect | NC_000014.9:g.7081 3492_70813637dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 70,813,492 | 70,813,637 |
| nssv16867593 | Submitted genomic | NC_000014.8:g.7128 0209_71280354dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 71,280,209 | 71,280,354 | ||
| nssv16881360 | Submitted genomic | NC_000014.8:g.7128 0209_71280354dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 71,280,209 | 71,280,354 | ||
| nssv17963657 | Submitted genomic | NC_000014.8:g.7128 0209_71280354dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 71,280,209 | 71,280,354 |
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) |
|---|---|---|---|
| nssv16867593 | 0.152 | 2553 | 16834 |
| nssv16881360 | 0.169 | 4949 | 29246 |
| nssv17963657 | 0.199 | 1276 | 6404 |