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dbVar

Database of genomic structural variation

nsv6637147

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:130,220

Description:GRCh37/hg19 4p13(chr4:41272231-41402450)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: 327 SVs from 38 studies. See in: genome view

Remapped(Score: Perfect):41,270,214-41,400,433

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6637147	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	41,270,214	41,400,433
nsv6637147	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	41,272,231	41,402,450

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv18329945	copy number loss	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV002473677.1, VCV001808360.1	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18329945	Remapped	Perfect	NC_000004.12:g.(?_ 41270214)_(4140043 3_?)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	41,270,214	41,400,433
nssv18329945	Submitted genomic		NC_000004.11:g.(?_ 41272231)_(4140245 0_?)del	GRCh37 (hg19)		NC_000004.11	Chr4	41,272,231	41,402,450

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
nssv18329945	GRCh37: NC_000004.11:g.(?_41272231)_(41402450_?)del	copy number loss	unknown	not provided	Uncertain significance	ClinVar	RCV002473677.1, VCV001808360.1	1

No genotype data were submitted for this variant

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