nsv6315575
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:delins
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:9,454
- Description:NC_000007.13:g.117300852_117310305delinsTAACT AND Cystic fibrosis
- Publication(s):ACOG Committee on Genetics et al. 2009, American College of Obstetricians and Gynecologists Committee on Genetics et al. 2011, Castellani et al. 2018, Centers for Disease Control and Prevention (CDC) et al. 2012, Clancy et al. 2014, Cystic Fibrosis Foundation et al. 2009, Cystic Fibrosis Foundation et al. 2009, Deignan et al. 2020, Delatycki et al. 2014, Flume et al. 2007, Flume et al. 2010, Grody et al. 2001, Gross et al. 2008, Langfelder-Schwind et al. 2005, Langfelder-Schwind et al. 2013, No authors et al. 2001, Ong et al. 2001, Richards et al. 2002, Sermet-Gaudelus et al. 2010, Wainwright et al. 2015
- ClinVar: RCV002284244.1
- ClinVar: VCV001705870.1
- GeneReviews: NBK1250
- MONDO: 0009061
- MedGen: C0010674
- OMIM: 219700
- Orphanet: 586
- PubMed: 11280952
- PubMed: 12394352
- PubMed: 15789152
- PubMed: 17761616
- PubMed: 18197057
- PubMed: 19888064
- PubMed: 19914443
- PubMed: 19914445
- PubMed: 20301428
- PubMed: 20605539
- PubMed: 20675678
- PubMed: 21422883
- PubMed: 21938795
- PubMed: 22475884
- PubMed: 24014130
- PubMed: 24598717
- PubMed: 25431289
- PubMed: 25981758
- PubMed: 29506920
- PubMed: 32404922
- Overlapping Genes
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 103 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 103 SVs from 26 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv6315575 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 117,660,798 | 117,670,251 |
| nsv6315575 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 117,300,852 | 117,310,305 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17977051 | delins | Multiple | Multiple | CYSTIC FIBROSIS; CF; Cystic Fibrosis and Congenital Absence of the Vas Deferens; Cystic fibrosis; Cystic fibrosis; Server error < EMBL-EBI | Pathogenic | ClinVar | RCV002284244.1, VCV001705870.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv17977051 | Submitted genomic | NC_000007.14:g.117 660798_117670251de linsTAACT | GRCh38 (hg38) | NC_000007.14 | Chr7 | 117,660,798 | 117,670,251 |
| nssv17977051 | Submitted genomic | NC_000007.13:g.117 300852_117310305de linsTAACT | GRCh37 (hg19) | NC_000007.13 | Chr7 | 117,300,852 | 117,310,305 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17977051 | GRCh37: NC_000007.13:g.117300852_117310305delinsTAACT, GRCh38: NC_000007.14:g.117660798_117670251delinsTAACT | delins | germline | CYSTIC FIBROSIS; CF; Cystic Fibrosis and Congenital Absence of the Vas Deferens; Cystic fibrosis; Cystic fibrosis; Server error < EMBL-EBI | Pathogenic | ClinVar | RCV002284244.1, VCV001705870.1 |