nsv7099001
- 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:18,898
- Description:NC_000007.14:g.66971410_66990307del AND Shwachman-Diamond syndrome 1
- Publication(s):Dror et al. 2011, LaRusch et al. 2014, Nelson et al. 2008
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 187 SVs from 48 studies. See in: genome view
Overlapping variant regions from other studies: 187 SVs from 48 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv7099001 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 66,971,410 | 66,990,307 |
| nsv7099001 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 66,436,397 | 66,455,294 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18792762 | deletion | Multiple | Multiple | SHWACHMAN-DIAMOND SYNDROME 1; SDS1; Shwachman-Diamond Syndrome; Shwachman-Diamond syndrome 1 | Pathogenic | ClinVar | RCV003221316.1, VCV002498197.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv18792762 | Submitted genomic | NC_000007.14:g.669 71410_66990307del | GRCh38 (hg38) | NC_000007.14 | Chr7 | 66,971,410 | 66,990,307 |
| nssv18792762 | Submitted genomic | NC_000007.13:g.664 36397_66455294del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 66,436,397 | 66,455,294 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18792762 | GRCh37: NC_000007.13:g.66436397_66455294del, GRCh38: NC_000007.14:g.66971410_66990307del | deletion | germline | SHWACHMAN-DIAMOND SYNDROME 1; SDS1; Shwachman-Diamond Syndrome; Shwachman-Diamond syndrome 1 | Pathogenic | ClinVar | RCV003221316.1, VCV002498197.1 |