nsv3915661
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:115,377
- Description:NCBI36/hg18 16p13.11(chr16:16137793-16213217)x3 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 796 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 598 SVs from 65 studies. See in: genome view
Overlapping variant regions from other studies: 796 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 282 SVs from 22 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv3915661 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 16,118,815 | 16,136,435 | 16,211,859 | 16,234,058 |
nsv3915661 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187607.1 | Chr16|NT_1 87607.1 | 1,776,680 | 1,776,680 | 1,892,056 | 1,892,056 |
nsv3915661 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000016.9 | Chr16 | 16,212,672 | 16,230,292 | 16,305,716 | 16,327,915 |
nsv3915661 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000016.8 | Chr16 | 16,120,173 | 16,137,793 | 16,213,217 | 16,235,416 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15124619 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000449847.2, VCV000400161.2 | 3 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv15124619 | Remapped | Good | NT_187607.1:g.(177 6680_1776680)_(189 2056_1892056)dup | GRCh38.p12 | Second Pass | NT_187607.1 | Chr16|NT_1 87607.1 | 1,776,680 | 1,776,680 | 1,892,056 | 1,892,056 |
nssv15124619 | Remapped | Perfect | NC_000016.10:g.(16 118815_16136435)_( 16211859_16234058) dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 16,118,815 | 16,136,435 | 16,211,859 | 16,234,058 |
nssv15124619 | Remapped | Perfect | NC_000016.9:g.(162 12672_16230292)_(1 6305716_16327915)d up | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 16,212,672 | 16,230,292 | 16,305,716 | 16,327,915 |
nssv15124619 | Submitted genomic | NC_000016.8:g.(161 20173_16137793)_(1 6213217_16235416)d up | NCBI36 (hg18) | NC_000016.8 | Chr16 | 16,120,173 | 16,137,793 | 16,213,217 | 16,235,416 |
No validation data were submitted for this variant
Clinical Assertions
Variant Call ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15124619 | NCBI36: NC_000016.8:g.(16120173_16137793)_(16213217_16235416)dup | copy number gain | not provided | See cases | Uncertain significance | ClinVar | RCV000449847.2, VCV000400161.2 | 3 |