nsv7093591
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:insertion
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:1
- Description:NM_000342.4(SLC4A1):c.1786_1787insGCTCCCTCTCCC
GTCTCCCGCTCACTCTCCCGTCTCCCGCTCCCTCTCCCGGCACCCTCGCCCGCACCCC
GCACCCACGCCCTCGCCAGCCGCGCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAG
AACAGCTCCT (p.Ser595_Tyr596insCysSerLeuSerArgLe
uProLeuThrLeuProSerProAlaProSerProGlyThrLeuAlaArgThrProHis
ProArgProArgGlnProArgXaaXaaXaaXaaLysLysLysLysLysLysLysAsnS
erSer) AND not provided
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 137 SVs from 18 studies. See in: genome view
Overlapping variant regions from other studies: 137 SVs from 18 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv7093591 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 44,255,686 | 44,255,686 |
| nsv7093591 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 42,333,054 | 42,333,054 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18786040 | insertion | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV002866750.1, VCV002027697.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv18786040 | Submitted genomic | NC_000017.11:g.442 55686_44255687ins1 38 | GRCh38 (hg38) | NC_000017.11 | Chr17 | 44,255,686 | 44,255,686 |
| nssv18786040 | Submitted genomic | NC_000017.10:g.423 33054_42333055ins1 38 | GRCh37 (hg19) | NC_000017.10 | Chr17 | 42,333,054 | 42,333,054 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18786040 | GRCh37: NC_000017.10:g.42333054_42333055ins138, GRCh38: NC_000017.11:g.44255686_44255687ins138 | insertion | germline | not provided | Pathogenic | ClinVar | RCV002866750.1, VCV002027697.1 |