nsv3907661
- 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:13,971
- Description:GRCh38/hg38 Xp11.3(chrX:44328048-44342018)x2 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: 128 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 128 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 11 SVs from 5 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3907661 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 44,328,048 | 44,342,018 |
| nsv3907661 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 44,187,294 | 44,201,264 |
| nsv3907661 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000023.9 | ChrX | 44,072,238 | 44,086,208 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15121334 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000140482.3, VCV000151797.1 | 2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15121334 | Submitted genomic | NC_000023.11:g.(?_ 44328048)_(4434201 8_?)dup | GRCh38 (hg38) | NC_000023.11 | ChrX | 44,328,048 | 44,342,018 |
| nssv15121334 | Submitted genomic | NC_000023.10:g.(?_ 44187294)_(4420126 4_?)dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 44,187,294 | 44,201,264 |
| nssv15121334 | Submitted genomic | NC_000023.9:g.(?_4 4072238)_(44086208 _?)dup | NCBI36 (hg18) | NC_000023.9 | ChrX | 44,072,238 | 44,086,208 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15121334 | GRCh37: NC_000023.10:g.(?_44187294)_(44201264_?)dup, GRCh38: NC_000023.11:g.(?_44328048)_(44342018_?)dup, NCBI36: NC_000023.9:g.(?_44072238)_(44086208_?)dup | copy number gain | not provided | See cases | Uncertain significance | ClinVar | RCV000140482.3, VCV000151797.1 | 2 |