nsv4578404
- 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:2,432
- Description:NM_000208.4(INSR):c.2030_2267+1del AND Rabson-Mendenhall syndrome
- Publication(s):Ben Harouch et al. 2018, Chen et al. 2017
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 105 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 105 SVs from 33 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv4578404 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000019.10 | Chr19 | 7,150,496 | 7,152,927 |
| nsv4578404 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 7,150,507 | 7,152,938 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15131531 | deletion | Multiple | Multiple | INSR-Related Severe Syndromic Insulin Resistance; PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES MELLITUS, AND SOMATIC ABNORMALITIES; Pineal hyperplasia AND diabetes mellitus syndrome; Rabson-Mendenhall syndrome | Pathogenic | ClinVar | RCV000578857.1, VCV000430587.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv15131531 | Submitted genomic | NC_000019.10:g.715 0496_7152927del | GRCh38 (hg38) | NC_000019.10 | Chr19 | 7,150,496 | 7,152,927 |
| nssv15131531 | Submitted genomic | NC_000019.9:g.7150 507_7152938del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 7,150,507 | 7,152,938 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15131531 | GRCh37: NC_000019.9:g.7150507_7152938del, GRCh38: NC_000019.10:g.7150496_7152927del | deletion | paternal | INSR-Related Severe Syndromic Insulin Resistance; PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES MELLITUS, AND SOMATIC ABNORMALITIES; Pineal hyperplasia AND diabetes mellitus syndrome; Rabson-Mendenhall syndrome | Pathogenic | ClinVar | RCV000578857.1, VCV000430587.1 |