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dbVar

Database of genomic structural variation

nsv3897764

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:29,278

Description:GRCh37/hg19 10p11.23(chr10:31247387-31276664)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: 303 SVs from 61 studies. See in: genome view

Remapped(Score: Perfect):30,958,458-30,987,735

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3897764	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000010.11	Chr10	30,958,458	30,987,735
nsv3897764	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000010.10	Chr10	31,247,387	31,276,664

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15170806	copy number loss	Multiple	Multiple	not provided	Benign	ClinVar	RCV000749555.2, VCV000612919.2	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15170806	Remapped	Perfect	NC_000010.11:g.(?_ 30958458)_(3098773 5_?)del	GRCh38.p12	First Pass	NC_000010.11	Chr10	30,958,458	30,987,735
nssv15170806	Submitted genomic		NC_000010.10:g.(?_ 31247387)_(3127666 4_?)del	GRCh37 (hg19)		NC_000010.10	Chr10	31,247,387	31,276,664

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
nssv15170806	GRCh37: NC_000010.10:g.(?_31247387)_(31276664_?)del	copy number loss	unknown	not provided	Benign	ClinVar	RCV000749555.2, VCV000612919.2	1

No genotype data were submitted for this variant

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