nsv3922819
- 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:2,714,756
- Description:GRCh38/hg38 6p22.3-22.2(chr6:23252522-25967277)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: 7853 SVs from 108 studies. See in: genome view
Overlapping variant regions from other studies: 7853 SVs from 108 studies. See in: genome view
Overlapping variant regions from other studies: 2347 SVs from 32 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3922819 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000006.12 | Chr6 | 23,252,522 | 25,967,277 |
| nsv3922819 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 23,252,750 | 25,967,505 |
| nsv3922819 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 23,360,729 | 26,075,484 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15147468 | copy number loss | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000138710.5, VCV000149747.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15147468 | Submitted genomic | NC_000006.12:g.(?_ 23252522)_(2596727 7_?)del | GRCh38 (hg38) | NC_000006.12 | Chr6 | 23,252,522 | 25,967,277 |
| nssv15147468 | Submitted genomic | NC_000006.11:g.(?_ 23252750)_(2596750 5_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 23,252,750 | 25,967,505 |
| nssv15147468 | Submitted genomic | NC_000006.10:g.(?_ 23360729)_(2607548 4_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 23,360,729 | 26,075,484 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15147468 | GRCh37: NC_000006.11:g.(?_23252750)_(25967505_?)del, GRCh38: NC_000006.12:g.(?_23252522)_(25967277_?)del, NCBI36: NC_000006.10:g.(?_23360729)_(26075484_?)del | copy number loss | not provided | See cases | Uncertain significance | ClinVar | RCV000138710.5, VCV000149747.2 | 1 |