nsv3911730
- 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:1,137,136
- Description:GRCh38/hg38 22q13.2(chr22:41277822-42414957)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: 3317 SVs from 92 studies. See in: genome view
Overlapping variant regions from other studies: 3566 SVs from 96 studies. See in: genome view
Overlapping variant regions from other studies: 822 SVs from 22 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3911730 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000022.11 | Chr22 | 41,277,822 | 42,414,957 |
| nsv3911730 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 41,673,826 | 42,810,963 |
| nsv3911730 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000022.9 | Chr22 | 40,003,772 | 41,140,907 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15146706 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000136785.4, VCV000147621.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15146706 | Submitted genomic | NC_000022.11:g.(?_ 41277822)_(4241495 7_?)dup | GRCh38 (hg38) | NC_000022.11 | Chr22 | 41,277,822 | 42,414,957 |
| nssv15146706 | Submitted genomic | NC_000022.10:g.(?_ 41673826)_(4281096 3_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 41,673,826 | 42,810,963 |
| nssv15146706 | Submitted genomic | NC_000022.9:g.(?_4 0003772)_(41140907 _?)dup | NCBI36 (hg18) | NC_000022.9 | Chr22 | 40,003,772 | 41,140,907 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15146706 | GRCh37: NC_000022.10:g.(?_41673826)_(42810963_?)dup, GRCh38: NC_000022.11:g.(?_41277822)_(42414957_?)dup, NCBI36: NC_000022.9:g.(?_40003772)_(41140907_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000136785.4, VCV000147621.2 | 3 |