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dbVar

Database of genomic structural variation

nsv4674945

Organism: Homo sapiens

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

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:13,611,908

Description:GRCh37/hg19 5q33.3-35.1(chr5:156347980-169959880)x1 AND not provided

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: 32477 SVs from 124 studies. See in: genome view

Remapped(Score: Perfect):156,920,969-170,532,876

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4674945	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	156,920,969	170,532,876
nsv4674945	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	156,347,980	169,959,880

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv16208049	copy number loss	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV001005746.1, VCV000814756.1	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16208049	Remapped	Perfect	NC_000005.10:g.(?_ 156920969)_(170532 876_?)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	156,920,969	170,532,876
nssv16208049	Submitted genomic		NC_000005.9:g.(?_1 56347980)_(1699598 80_?)del	GRCh37 (hg19)		NC_000005.9	Chr5	156,347,980	169,959,880

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	Copy number
nssv16208049	GRCh37: NC_000005.9:g.(?_156347980)_(169959880_?)del	copy number loss	germline	not provided	Pathogenic	ClinVar	RCV001005746.1, VCV000814756.1	1

No genotype data were submitted for this variant

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