nsv4682547
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:37,867
- Description:
See descriptions for individual calls in download files - Publication(s):Authors/Task Force members et al. 2014, Taylor et al. 2020
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 168 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 164 SVs from 36 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4682547 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 120,431,313 | 120,469,179 |
nsv4682547 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 119,565,168 | 119,603,034 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|---|
nssv16214181 | duplication | Multiple | Multiple | DANON DISEASE; Danon Disease; Danon disease; Glycogen storage disease due to LAMP-2 deficiency | Uncertain significance | ClinVar | RCV001032739.2, VCV000832229.2 |
nssv17172870 | deletion | Multiple | Multiple | DANON DISEASE; Danon Disease; Danon disease; Glycogen storage disease due to LAMP-2 deficiency | Pathogenic | ClinVar | RCV001384890.4, VCV001072236.4 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16214181 | Remapped | Perfect | NC_000023.11:g.(?_ 120431313)_(120469 179_?)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 120,431,313 | 120,469,179 |
nssv17172870 | Remapped | Perfect | NC_000023.11:g.(?_ 120431313)_(120469 179_?)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 120,431,313 | 120,469,179 |
nssv16214181 | Submitted genomic | NC_000023.10:g.(?_ 119565168)_(119603 034_?)dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 119,565,168 | 119,603,034 | ||
nssv17172870 | Submitted genomic | NC_000023.10:g.(?_ 119565168)_(119603 034_?)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 119,565,168 | 119,603,034 |
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 |
---|---|---|---|---|---|---|---|
nssv16214181 | GRCh37: NC_000023.10:g.(?_119565168)_(119603034_?)dup | duplication | germline | DANON DISEASE; Danon Disease; Danon disease; Glycogen storage disease due to LAMP-2 deficiency | Uncertain significance | ClinVar | RCV001032739.2, VCV000832229.2 |
nssv17172870 | GRCh37: NC_000023.10:g.(?_119565168)_(119603034_?)del | deletion | germline | DANON DISEASE; Danon Disease; Danon disease; Glycogen storage disease due to LAMP-2 deficiency | Pathogenic | ClinVar | RCV001384890.4, VCV001072236.4 |