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dbVar

Database of genomic structural variation

nsv4682804

Organism: Homo sapiens

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

Variant Calls:2
Validation:Not tested
Clinical Assertions: Yes
Region Size:7,132

Description:
See descriptions for individual calls in download files
Publication(s):LaRusch et al. 2014, Solomon et al. 2012

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: 73 SVs from 18 studies. See in: genome view

Remapped(Score: Perfect):147,824,661-147,831,792

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4682804	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	147,824,661	147,831,792
nsv4682804	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	147,204,224	147,211,355

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16213302	deletion	Multiple	Multiple	Hereditary chronic pancreatitis; Hereditary pancreatitis; PANCREATITIS, HEREDITARY; PCTT; PRSS1-Related Hereditary Pancreatitis	Pathogenic	ClinVar	RCV001031457.4, VCV000830855.4
nssv17974342	duplication	Multiple	Multiple	Hereditary chronic pancreatitis; Hereditary pancreatitis; PANCREATITIS, HEREDITARY; PCTT; PRSS1-Related Hereditary Pancreatitis	Uncertain significance	ClinVar	RCV001883068.2, VCV001374307.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16213302	Remapped	Perfect	NC_000005.10:g.(?_ 147824661)_(147831 792_?)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	147,824,661	147,831,792
nssv17974342	Remapped	Perfect	NC_000005.10:g.(?_ 147824661)_(147831 792_?)dup	GRCh38.p12	First Pass	NC_000005.10	Chr5	147,824,661	147,831,792
nssv16213302	Submitted genomic		NC_000005.9:g.(?_1 47204224)_(1472113 55_?)del	GRCh37 (hg19)		NC_000005.9	Chr5	147,204,224	147,211,355
nssv17974342	Submitted genomic		NC_000005.9:g.(?_1 47204224)_(1472113 55_?)dup	GRCh37 (hg19)		NC_000005.9	Chr5	147,204,224	147,211,355

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
nssv16213302	GRCh37: NC_000005.9:g.(?_147204224)_(147211355_?)del	deletion	germline	Hereditary chronic pancreatitis; Hereditary pancreatitis; PANCREATITIS, HEREDITARY; PCTT; PRSS1-Related Hereditary Pancreatitis	Pathogenic	ClinVar	RCV001031457.4, VCV000830855.4
nssv17974342	GRCh37: NC_000005.9:g.(?_147204224)_(147211355_?)dup	duplication	germline	Hereditary chronic pancreatitis; Hereditary pancreatitis; PANCREATITIS, HEREDITARY; PCTT; PRSS1-Related Hereditary Pancreatitis	Uncertain significance	ClinVar	RCV001883068.2, VCV001374307.2

No genotype data were submitted for this variant

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