nsv3916072
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:insertion
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:7
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:1
- Description:
See descriptions for individual calls in download files - Publication(s):Amant et al. 1997, Arbustini et al. 1995, Bøhn et al. 1993, Bøhn et al. 1993, Cambien et al. 1988, Cambien et al. 1992, Casas et al. 2004, Doria et al. 1994, Elkins et al. 2004, Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Working Group et al. 2010, Evans et al. 1994, Gardemann et al. 1998, Gayagay et al. 1998, Hamdi et al. 2004, Harding et al. 2002, Harding et al. 2003, Hu et al. 1999, Huang et al. 2001, Itoyama et al. 2004, Jeffery et al. 1999, Kajantie et al. 2004, Keavney et al. 2000, Kehoe et al. 1999, Lindpaintner et al. 1995, Marre et al. 1994, Marre et al. 1997, Martinuzzi et al. 2003, Meschia et al. 2014, Ohishi et al. 1993, Oike et al. 1995, Pei et al. 1997, Pfeffer et al. 1992, Rigat et al. 1990, Rigat et al. 1992, Ruiz et al. 1994, Sayed-Tabatabaei et al. 2005, Schmidt et al. 1995, Schächter et al. 1994, Schürks et al. 2009, Slowik et al. 2004, Soubrier et al. 1988, Tarnow et al. 1995, Tiret et al. 1992, Vleming et al. 1999, Winkelmann et al. 1996, Yoon et al. 2002, Yoshida et al. 1995
- ClinVar: RCV000019678.11
- ClinVar: RCV000019680.11
- ClinVar: RCV000019682.11
- ClinVar: RCV000019683.36
- ClinVar: RCV000019684.11
- ClinVar: RCV001799610.8
- ClinVar: RCV001836712.8
- ClinVar: VCV000018061.5
- HP: 0002140
- MONDO: 0012039
- MONDO: 0012963
- MONDO: 0013792
- MedGen: C0948008
- MedGen: C1832662
- MedGen: C1862877
- MedGen: C1862886
- MedGen: C2675470
- MedGen: C3281105
- OMIM: 106180.0001
- OMIM: 601367
- OMIM: 603933
- OMIM: 608446
- OMIM: 612624
- OMIM: 614519
- PubMed: 10099885
- PubMed: 10636736
- PubMed: 10643899
- PubMed: 10841123
- PubMed: 11687636
- PubMed: 11956052
- PubMed: 12220450
- PubMed: 12666117
- PubMed: 1313972
- PubMed: 1319114
- PubMed: 1328889
- PubMed: 1386652
- PubMed: 14657821
- PubMed: 14872014
- PubMed: 15110771
- PubMed: 15277638
- PubMed: 15381116
- PubMed: 15531537
- PubMed: 15534175
- PubMed: 15635071
- PubMed: 19221299
- PubMed: 1976655
- PubMed: 21042222
- PubMed: 25355838
- PubMed: 2847529
- PubMed: 2849100
- PubMed: 7593601
- PubMed: 7729604
- PubMed: 7783416
- PubMed: 7854377
- PubMed: 7909524
- PubMed: 8131299
- PubMed: 8131300
- PubMed: 8136829
- PubMed: 8170965
- PubMed: 8208911
- PubMed: 8298638
- PubMed: 8314010
- PubMed: 8541160
- PubMed: 8644984
- PubMed: 8675669
- PubMed: 9120002
- PubMed: 9236417
- PubMed: 9259580
- PubMed: 9699903
- PubMed: 9737775
- PubMed: 9916793
- 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: 115 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 115 SVs from 20 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|
nsv3916072 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 63,488,531 | 63,488,531 |
nsv3916072 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 61,565,892 | 61,565,892 |
Variant Call Information
Variant Call Placement Information
Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|
nssv15119740 | Submitted genomic | NC_000017.11:g.634 88531_63488532ins? | GRCh38 (hg38) | NC_000017.11 | Chr17 | 63,488,531 | 63,488,531 |
nssv15120216 | Submitted genomic | NC_000017.11:g.634 88531_63488532ins? | GRCh38 (hg38) | NC_000017.11 | Chr17 | 63,488,531 | 63,488,531 |
nssv15120217 | Submitted genomic | NC_000017.11:g.634 88531_63488532ins? | GRCh38 (hg38) | NC_000017.11 | Chr17 | 63,488,531 | 63,488,531 |
nssv15120219 | Submitted genomic | NC_000017.11:g.634 88531_63488532ins? | GRCh38 (hg38) | NC_000017.11 | Chr17 | 63,488,531 | 63,488,531 |
nssv15120220 | Submitted genomic | NC_000017.11:g.634 88531_63488532ins? | GRCh38 (hg38) | NC_000017.11 | Chr17 | 63,488,531 | 63,488,531 |
nssv17956017 | Submitted genomic | NC_000017.11:g.634 88531_63488532ins? | GRCh38 (hg38) | NC_000017.11 | Chr17 | 63,488,531 | 63,488,531 |
nssv17956447 | Submitted genomic | NC_000017.11:g.634 88531_63488532ins? | GRCh38 (hg38) | NC_000017.11 | Chr17 | 63,488,531 | 63,488,531 |
nssv15119740 | Submitted genomic | NC_000017.10:g.615 65892_61565893ins? | GRCh37 (hg19) | NC_000017.10 | Chr17 | 61,565,892 | 61,565,892 |
nssv15120216 | Submitted genomic | NC_000017.10:g.615 65892_61565893ins? | GRCh37 (hg19) | NC_000017.10 | Chr17 | 61,565,892 | 61,565,892 |
nssv15120217 | Submitted genomic | NC_000017.10:g.615 65892_61565893ins? | GRCh37 (hg19) | NC_000017.10 | Chr17 | 61,565,892 | 61,565,892 |
nssv15120219 | Submitted genomic | NC_000017.10:g.615 65892_61565893ins? | GRCh37 (hg19) | NC_000017.10 | Chr17 | 61,565,892 | 61,565,892 |
nssv15120220 | Submitted genomic | NC_000017.10:g.615 65892_61565893ins? | GRCh37 (hg19) | NC_000017.10 | Chr17 | 61,565,892 | 61,565,892 |
nssv17956017 | Submitted genomic | NC_000017.10:g.615 65892_61565893ins? | GRCh37 (hg19) | NC_000017.10 | Chr17 | 61,565,892 | 61,565,892 |
nssv17956447 | Submitted genomic | NC_000017.10:g.615 65892_61565893ins? | GRCh37 (hg19) | NC_000017.10 | Chr17 | 61,565,892 | 61,565,892 |
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 |
---|---|---|---|---|---|---|---|
nssv15119740 | GRCh37: NC_000017.10:g.61565892_61565893ins?, GRCh38: NC_000017.11:g.63488531_63488532ins? | insertion | germline | Susceptibility to progression to renal failure in IgA nephropathy | risk factor | ClinVar | RCV000019684.11, VCV000018061.5 |
nssv15120216 | GRCh37: NC_000017.10:g.61565892_61565893ins?, GRCh38: NC_000017.11:g.63488531_63488532ins? | insertion | germline | See individual phenotypes in OMIM allelic variants | Benign | ClinVar | RCV000019678.11, VCV000018061.5 |
nssv15120217 | GRCh37: NC_000017.10:g.61565892_61565893ins?, GRCh38: NC_000017.11:g.63488531_63488532ins? | insertion | germline | MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 1; MVCD1; MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 3; MVCD3; Microvascular complications of diabetes 3 | risk factor | ClinVar | RCV000019680.11, VCV000018061.5 |
nssv15120219 | GRCh37: NC_000017.10:g.61565892_61565893ins?, GRCh38: NC_000017.11:g.63488531_63488532ins? | insertion | germline | Ischemic stroke; Ischemic stroke; STROKE, ISCHEMIC | risk factor | ClinVar | RCV000019682.11, VCV000018061.5 |
nssv15120220 | GRCh37: NC_000017.10:g.61565892_61565893ins?, GRCh38: NC_000017.11:g.63488531_63488532ins? | insertion | germline | Severe acute respiratory syndrome, progression of | Pathogenic | ClinVar | RCV000019683.36, VCV000018061.5 |
nssv17956017 | GRCh37: NC_000017.10:g.61565892_61565893ins?, GRCh38: NC_000017.11:g.63488531_63488532ins? | insertion | germline | MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO; Myocardial infarction, susceptibility to | risk factor | ClinVar | RCV001799610.8, VCV000018061.5 |
nssv17956447 | GRCh37: NC_000017.10:g.61565892_61565893ins?, GRCh38: NC_000017.11:g.63488531_63488532ins? | insertion | germline | HEMORRHAGE, INTRACEREBRAL, SUSCEPTIBILITY TO; ICH; Hemorrhage, intracerebral, susceptibility to | risk factor | ClinVar | RCV001836712.8, VCV000018061.5 |