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dbVar

Database of genomic structural variation

nsv4683551

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh37

Variant Calls:9
Validation:Not tested
Clinical Assertions: Yes
Region Size:1,115,623

Description:
See descriptions for individual calls in download files
Publication(s):Bali et al. 2006, Kishnani et al. 2014

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: 3543 SVs from 85 studies. See in: genome view

Remapped(Score: Perfect):117,986,053-119,101,675

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4683551	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000011.10	Chr11	117,986,053	119,101,675
nsv4683551	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000011.9	Chr11	117,856,768	118,972,385

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16213457	deletion	Multiple	Multiple	IMMUNODEFICIENCY 19; IMD19; Immunodeficiency 19	Pathogenic	ClinVar	RCV001031688.3, VCV000831101.4
nssv16866243	duplication	Multiple	Multiple	INFLAMMATORY BOWEL DISEASE 28, AUTOSOMAL RECESSIVE; IBD28; Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome; Inflammatory bowel disease 28, autosomal recessive	Uncertain significance	ClinVar	RCV001304384.1, VCV001007237.2
nssv16866517	duplication	Multiple	Multiple	IMMUNODEFICIENCY 17; IMD17; Immunodeficiency 17	Uncertain significance	ClinVar	RCV001313154.1, VCV001007237.2
nssv16866850	duplication	Multiple	Multiple	IMMUNODEFICIENCY 19; IMD19; Immunodeficiency 19	Uncertain significance	ClinVar	RCV001322413.1, VCV001007237.2
nssv17173167	duplication	Multiple	Multiple	GLYCOGEN STORAGE DISEASE Ib; GSD1B; Glucose-6-phosphate transport defect; Glycogen Storage Disease Type I; Glycogen storage disease due to glucose-6-phosphatase deficiency; Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib	Uncertain significance	ClinVar	RCV001031254.1, VCV001007237.2
nssv17173234	duplication	Multiple	Multiple	IMMUNODEFICIENCY 18; IMD18; Immunodeficiency 18	Uncertain significance	ClinVar	RCV001338286.1, VCV001007237.2
nssv17173238	deletion	Multiple	Multiple	INFLAMMATORY BOWEL DISEASE 28, AUTOSOMAL RECESSIVE; IBD28; Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome; Inflammatory bowel disease 28, autosomal recessive	Pathogenic	ClinVar	RCV001386823.3, VCV000831101.4
nssv17173239	deletion	Multiple	Multiple	IMMUNODEFICIENCY 18; IMD18; Immunodeficiency 18	Pathogenic	ClinVar	RCV001389243.3, VCV000831101.4
nssv17173281	deletion	Multiple	Multiple	IMMUNODEFICIENCY 17; IMD17; Immunodeficiency 17	Pathogenic	ClinVar	RCV001382626.3, VCV000831101.4

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16213457	Remapped	Perfect	NC_000011.10:g.(?_ 117986053)_(119101 675_?)del	GRCh38.p12	First Pass	NC_000011.10	Chr11	117,986,053	119,101,675
nssv16866243	Remapped	Perfect	NC_000011.10:g.(?_ 117986053)_(119101 675_?)dup	GRCh38.p12	First Pass	NC_000011.10	Chr11	117,986,053	119,101,675
nssv16866517	Remapped	Perfect	NC_000011.10:g.(?_ 117986053)_(119101 675_?)dup	GRCh38.p12	First Pass	NC_000011.10	Chr11	117,986,053	119,101,675
nssv16866850	Remapped	Perfect	NC_000011.10:g.(?_ 117986053)_(119101 675_?)dup	GRCh38.p12	First Pass	NC_000011.10	Chr11	117,986,053	119,101,675
nssv17173167	Remapped	Perfect	NC_000011.10:g.(?_ 117986053)_(119101 675_?)dup	GRCh38.p12	First Pass	NC_000011.10	Chr11	117,986,053	119,101,675
nssv17173234	Remapped	Perfect	NC_000011.10:g.(?_ 117986053)_(119101 675_?)dup	GRCh38.p12	First Pass	NC_000011.10	Chr11	117,986,053	119,101,675
nssv17173238	Remapped	Perfect	NC_000011.10:g.(?_ 117986053)_(119101 675_?)del	GRCh38.p12	First Pass	NC_000011.10	Chr11	117,986,053	119,101,675
nssv17173239	Remapped	Perfect	NC_000011.10:g.(?_ 117986053)_(119101 675_?)del	GRCh38.p12	First Pass	NC_000011.10	Chr11	117,986,053	119,101,675
nssv17173281	Remapped	Perfect	NC_000011.10:g.(?_ 117986053)_(119101 675_?)del	GRCh38.p12	First Pass	NC_000011.10	Chr11	117,986,053	119,101,675
nssv16213457	Submitted genomic		NC_000011.9:g.(?_1 17856768)_(1189723 85_?)del	GRCh37 (hg19)		NC_000011.9	Chr11	117,856,768	118,972,385
nssv16866243	Submitted genomic		NC_000011.9:g.(?_1 17856768)_(1189723 85_?)dup	GRCh37 (hg19)		NC_000011.9	Chr11	117,856,768	118,972,385
nssv16866517	Submitted genomic		NC_000011.9:g.(?_1 17856768)_(1189723 85_?)dup	GRCh37 (hg19)		NC_000011.9	Chr11	117,856,768	118,972,385
nssv16866850	Submitted genomic		NC_000011.9:g.(?_1 17856768)_(1189723 85_?)dup	GRCh37 (hg19)		NC_000011.9	Chr11	117,856,768	118,972,385
nssv17173167	Submitted genomic		NC_000011.9:g.(?_1 17856768)_(1189723 85_?)dup	GRCh37 (hg19)		NC_000011.9	Chr11	117,856,768	118,972,385
nssv17173234	Submitted genomic		NC_000011.9:g.(?_1 17856768)_(1189723 85_?)dup	GRCh37 (hg19)		NC_000011.9	Chr11	117,856,768	118,972,385
nssv17173238	Submitted genomic		NC_000011.9:g.(?_1 17856768)_(1189723 85_?)del	GRCh37 (hg19)		NC_000011.9	Chr11	117,856,768	118,972,385
nssv17173239	Submitted genomic		NC_000011.9:g.(?_1 17856768)_(1189723 85_?)del	GRCh37 (hg19)		NC_000011.9	Chr11	117,856,768	118,972,385
nssv17173281	Submitted genomic		NC_000011.9:g.(?_1 17856768)_(1189723 85_?)del	GRCh37 (hg19)		NC_000011.9	Chr11	117,856,768	118,972,385

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
nssv16213457	GRCh37: NC_000011.9:g.(?_117856768)_(118972385_?)del	deletion	germline	IMMUNODEFICIENCY 19; IMD19; Immunodeficiency 19	Pathogenic	ClinVar	RCV001031688.3, VCV000831101.4
nssv16866243	GRCh37: NC_000011.9:g.(?_117856768)_(118972385_?)dup	duplication	germline	INFLAMMATORY BOWEL DISEASE 28, AUTOSOMAL RECESSIVE; IBD28; Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome; Inflammatory bowel disease 28, autosomal recessive	Uncertain significance	ClinVar	RCV001304384.1, VCV001007237.2
nssv16866517	GRCh37: NC_000011.9:g.(?_117856768)_(118972385_?)dup	duplication	germline	IMMUNODEFICIENCY 17; IMD17; Immunodeficiency 17	Uncertain significance	ClinVar	RCV001313154.1, VCV001007237.2
nssv16866850	GRCh37: NC_000011.9:g.(?_117856768)_(118972385_?)dup	duplication	germline	IMMUNODEFICIENCY 19; IMD19; Immunodeficiency 19	Uncertain significance	ClinVar	RCV001322413.1, VCV001007237.2
nssv17173167	GRCh37: NC_000011.9:g.(?_117856768)_(118972385_?)dup	duplication	germline	GLYCOGEN STORAGE DISEASE Ib; GSD1B; Glucose-6-phosphate transport defect; Glycogen Storage Disease Type I; Glycogen storage disease due to glucose-6-phosphatase deficiency; Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib	Uncertain significance	ClinVar	RCV001031254.1, VCV001007237.2
nssv17173234	GRCh37: NC_000011.9:g.(?_117856768)_(118972385_?)dup	duplication	germline	IMMUNODEFICIENCY 18; IMD18; Immunodeficiency 18	Uncertain significance	ClinVar	RCV001338286.1, VCV001007237.2
nssv17173238	GRCh37: NC_000011.9:g.(?_117856768)_(118972385_?)del	deletion	germline	INFLAMMATORY BOWEL DISEASE 28, AUTOSOMAL RECESSIVE; IBD28; Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome; Inflammatory bowel disease 28, autosomal recessive	Pathogenic	ClinVar	RCV001386823.3, VCV000831101.4
nssv17173239	GRCh37: NC_000011.9:g.(?_117856768)_(118972385_?)del	deletion	germline	IMMUNODEFICIENCY 18; IMD18; Immunodeficiency 18	Pathogenic	ClinVar	RCV001389243.3, VCV000831101.4
nssv17173281	GRCh37: NC_000011.9:g.(?_117856768)_(118972385_?)del	deletion	germline	IMMUNODEFICIENCY 17; IMD17; Immunodeficiency 17	Pathogenic	ClinVar	RCV001382626.3, VCV000831101.4

No genotype data were submitted for this variant

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