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dbVar

Database of genomic structural variation

nsv3895920

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:28,591

Description:GRCh37/hg19 10p11.23(chr10:31247387-31275977)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: 300 SVs from 61 studies. See in: genome view

Remapped(Score: Perfect):30,958,458-30,987,048

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3895920	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000010.11	Chr10	30,958,458	30,987,048
nsv3895920	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000010.10	Chr10	31,247,387	31,275,977

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15157713	copy number loss	Multiple	Multiple	not provided	Benign	ClinVar	RCV000737071.2, VCV000600435.2	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15157713	Remapped	Perfect	NC_000010.11:g.(?_ 30958458)_(3098704 8_?)del	GRCh38.p12	First Pass	NC_000010.11	Chr10	30,958,458	30,987,048
nssv15157713	Submitted genomic		NC_000010.10:g.(?_ 31247387)_(3127597 7_?)del	GRCh37 (hg19)		NC_000010.10	Chr10	31,247,387	31,275,977

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
nssv15157713	GRCh37: NC_000010.10:g.(?_31247387)_(31275977_?)del	copy number loss	unknown	not provided	Benign	ClinVar	RCV000737071.2, VCV000600435.2	1

No genotype data were submitted for this variant

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