nsv4454397
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:238,739
- Description:NC_000001.10:g.(?_155870169)_(156108907_?)dup AND Charcot-Marie-Tooth disease type 2
- Publication(s):Bird et al. 1998
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 679 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 684 SVs from 57 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv4454397 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 155,900,378 | 156,139,116 |
| nsv4454397 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 155,870,169 | 156,108,907 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15771775 | duplication | Multiple | Multiple | Charcot-Marie-Tooth disease, type 2 | Uncertain significance | ClinVar | RCV000817926.2, VCV000660674.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15771775 | Submitted genomic | NC_000001.11:g.(?_ 155900378)_(156139 116_?)dup | GRCh38 (hg38) | NC_000001.11 | Chr1 | 155,900,378 | 156,139,116 |
| nssv15771775 | Submitted genomic | NC_000001.10:g.(?_ 155870169)_(156108 907_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 155,870,169 | 156,108,907 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15771775 | GRCh37: NC_000001.10:g.(?_155870169)_(156108907_?)dup, GRCh38: NC_000001.11:g.(?_155900378)_(156139116_?)dup | duplication | germline | Charcot-Marie-Tooth disease, type 2 | Uncertain significance | ClinVar | RCV000817926.2, VCV000660674.2 |