nsv6123974
- 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:1,412
- Description:nsv5526938 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: 392 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 61 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 392 SVs from 50 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6123974 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 878,459 | 879,870 |
| nsv6123974 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187622.1 | Chr19|NT_1 87622.1 | 59,094 | 60,207 |
| nsv6123974 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 878,459 | 879,870 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17958878 | duplication | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17958878 | Remapped | Pass | NT_187622.1:g.5909 4_60207dup | GRCh38.p12 | Second Pass | NT_187622.1 | Chr19|NT_1 87622.1 | 59,094 | 60,207 |
| nssv17958878 | Remapped | Perfect | NC_000019.10:g.878 459_879870dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 878,459 | 879,870 |
| nssv17958878 | Submitted genomic | NC_000019.9:g.8784 59_879870dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 878,459 | 879,870 |
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) |
|---|---|---|---|
| nssv17958878 | 0.931 | 5961 | 6404 |