nsv3870481
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:21,080
- Description:
See descriptions for individual calls in download files - 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, LaRusch et al. 2014, 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, Solomon et al. 2012, Wainwright et al. 2015
- ClinVar: RCV000056395.7
- ClinVar: RCV000119042.3
- ClinVar: RCV000780152.1
- ClinVar: RCV001705711.1
- ClinVar: VCV000066105.9
- GeneReviews: NBK1250
- GeneReviews: NBK84399
- HP: 0011962
- MONDO: 0008185
- MONDO: 0009061
- MedGen: C0010674
- MedGen: C0238339
- MedGen: C4023106
- MedGen: CN169374
- OMIM: 167800
- OMIM: 219700
- Orphanet: 586
- Orphanet: 676
- 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: 22379635
- PubMed: 22475884
- PubMed: 24014130
- PubMed: 24598717
- PubMed: 24624459
- 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: 133 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 133 SVs from 31 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv3870481 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 117,498,313 | 117,519,392 |
| nsv3870481 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 117,138,367 | 117,159,446 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15147227 | deletion | Multiple | Multiple | Hereditary chronic pancreatitis; Hereditary pancreatitis; PANCREATITIS, HEREDITARY; PCTT; PRSS1-Related Hereditary Pancreatitis | not provided | ClinVar | RCV000119042.3, VCV000066105.9 |
| nssv15161522 | deletion | Multiple | Multiple | CYSTIC FIBROSIS; CF; Cystic Fibrosis and Congenital Absence of the Vas Deferens; Cystic fibrosis; Cystic fibrosis; Server error < EMBL-EBI | Pathogenic | ClinVar | RCV000056395.7, VCV000066105.9 |
| nssv15606984 | deletion | Multiple | Multiple | not specified | Pathogenic | ClinVar | RCV000780152.1, VCV000066105.9 |
| nssv17683561 | deletion | Multiple | Multiple | Obstructive azoospermia; Obstructive azoospermia | Pathogenic | ClinVar | RCV001705711.1, VCV000066105.9 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv15147227 | Submitted genomic | NC_000007.14:g.117 498313_117519392de l | GRCh38 (hg38) | NC_000007.14 | Chr7 | 117,498,313 | 117,519,392 |
| nssv15161522 | Submitted genomic | NC_000007.14:g.117 498313_117519392de l | GRCh38 (hg38) | NC_000007.14 | Chr7 | 117,498,313 | 117,519,392 |
| nssv15606984 | Submitted genomic | NC_000007.14:g.117 498313_117519392de l | GRCh38 (hg38) | NC_000007.14 | Chr7 | 117,498,313 | 117,519,392 |
| nssv17683561 | Submitted genomic | NC_000007.14:g.117 498313_117519392de l | GRCh38 (hg38) | NC_000007.14 | Chr7 | 117,498,313 | 117,519,392 |
| nssv15147227 | Submitted genomic | NC_000007.13:g.117 138367_117159446de l | GRCh37 (hg19) | NC_000007.13 | Chr7 | 117,138,367 | 117,159,446 |
| nssv15161522 | Submitted genomic | NC_000007.13:g.117 138367_117159446de l | GRCh37 (hg19) | NC_000007.13 | Chr7 | 117,138,367 | 117,159,446 |
| nssv15606984 | Submitted genomic | NC_000007.13:g.117 138367_117159446de l | GRCh37 (hg19) | NC_000007.13 | Chr7 | 117,138,367 | 117,159,446 |
| nssv17683561 | Submitted genomic | NC_000007.13:g.117 138367_117159446de l | GRCh37 (hg19) | NC_000007.13 | Chr7 | 117,138,367 | 117,159,446 |
No validation data were submitted for this variant
Clinical Assertions There exist variant calls with the same type and copy number with different clinical interpretation.
| Variant Call ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15147227 | GRCh37: NC_000007.13:g.117138367_117159446del, GRCh38: NC_000007.14:g.117498313_117519392del | deletion | germline | Hereditary chronic pancreatitis; Hereditary pancreatitis; PANCREATITIS, HEREDITARY; PCTT; PRSS1-Related Hereditary Pancreatitis | not provided | ClinVar | RCV000119042.3, VCV000066105.9 |
| nssv15161522 | GRCh37: NC_000007.13:g.117138367_117159446del, GRCh38: NC_000007.14:g.117498313_117519392del | deletion | see ClinVar for details | CYSTIC FIBROSIS; CF; Cystic Fibrosis and Congenital Absence of the Vas Deferens; Cystic fibrosis; Cystic fibrosis; Server error < EMBL-EBI | Pathogenic | ClinVar | RCV000056395.7, VCV000066105.9 |
| nssv15606984 | GRCh37: NC_000007.13:g.117138367_117159446del, GRCh38: NC_000007.14:g.117498313_117519392del | deletion | germline | not specified | Pathogenic | ClinVar | RCV000780152.1, VCV000066105.9 |
| nssv17683561 | GRCh37: NC_000007.13:g.117138367_117159446del, GRCh38: NC_000007.14:g.117498313_117519392del | deletion | germline | Obstructive azoospermia; Obstructive azoospermia | Pathogenic | ClinVar | RCV001705711.1, VCV000066105.9 |