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

Links to Other Resources

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

Submitted genomic63,488,531-63,488,531

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 ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv15119740	insertion	Multiple	Multiple	Susceptibility to progression to renal failure in IgA nephropathy	risk factor	ClinVar	RCV000019684.11, VCV000018061.5
nssv15120216	insertion	Multiple	Multiple	See individual phenotypes in OMIM allelic variants	Benign	ClinVar	RCV000019678.11, VCV000018061.5
nssv15120217	insertion	Multiple	Multiple	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	insertion	Multiple	Multiple	Ischemic stroke; Ischemic stroke; STROKE, ISCHEMIC	risk factor	ClinVar	RCV000019682.11, VCV000018061.5
nssv15120220	insertion	Multiple	Multiple	Severe acute respiratory syndrome, progression of	Pathogenic	ClinVar	RCV000019683.36, VCV000018061.5
nssv17956017	insertion	Multiple	Multiple	MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO; Myocardial infarction, susceptibility to	risk factor	ClinVar	RCV001799610.8, VCV000018061.5
nssv17956447	insertion	Multiple	Multiple	HEMORRHAGE, INTRACEREBRAL, SUSCEPTIBILITY TO; ICH; Hemorrhage, intracerebral, susceptibility to	risk factor	ClinVar	RCV001836712.8, VCV000018061.5

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

dbVar

Database of genomic structural variation

nsv3916072

Links to Other Resources

Genome View

Variant Region Placement Information

Variant Call Information

Variant Call Placement Information

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.

No genotype data were submitted for this variant