nsv3922813
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:218,632
- Description:GRCh38/hg38 16p13.3(chr16:2586110-2804741)x1 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: 947 SVs from 96 studies. See in: genome view
Overlapping variant regions from other studies: 947 SVs from 96 studies. See in: genome view
Overlapping variant regions from other studies: 292 SVs from 23 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3922813 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000016.10 | Chr16 | 2,586,110 | 2,804,741 |
| nsv3922813 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 2,636,111 | 2,854,742 |
| nsv3922813 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000016.8 | Chr16 | 2,576,112 | 2,794,743 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15137881 | copy number loss | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000142770.4, VCV000154703.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15137881 | Submitted genomic | NC_000016.10:g.(?_ 2586110)_(2804741_ ?)del | GRCh38 (hg38) | NC_000016.10 | Chr16 | 2,586,110 | 2,804,741 |
| nssv15137881 | Submitted genomic | NC_000016.9:g.(?_2 636111)_(2854742_? )del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 2,636,111 | 2,854,742 |
| nssv15137881 | Submitted genomic | NC_000016.8:g.(?_2 576112)_(2794743_? )del | NCBI36 (hg18) | NC_000016.8 | Chr16 | 2,576,112 | 2,794,743 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15137881 | GRCh37: NC_000016.9:g.(?_2636111)_(2854742_?)del, GRCh38: NC_000016.10:g.(?_2586110)_(2804741_?)del, NCBI36: NC_000016.8:g.(?_2576112)_(2794743_?)del | copy number loss | de novo | See cases | Uncertain significance | ClinVar | RCV000142770.4, VCV000154703.2 | 1 |