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dbVar

Database of genomic structural variation

nsv3900034

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:298,889

Description:GRCh37/hg19 10q21.1(chr10:56914138-57213026)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: 1148 SVs from 79 studies. See in: genome view

Remapped(Score: Perfect):55,154,378-55,453,266

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3900034	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000010.11	Chr10	55,154,378	55,453,266
nsv3900034	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000010.10	Chr10	56,914,138	57,213,026

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15158403	copy number loss	Multiple	Multiple	not provided	Benign	ClinVar	RCV000737133.2, VCV000600497.2	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15158403	Remapped	Perfect	NC_000010.11:g.(?_ 55154378)_(5545326 6_?)del	GRCh38.p12	First Pass	NC_000010.11	Chr10	55,154,378	55,453,266
nssv15158403	Submitted genomic		NC_000010.10:g.(?_ 56914138)_(5721302 6_?)del	GRCh37 (hg19)		NC_000010.10	Chr10	56,914,138	57,213,026

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
nssv15158403	GRCh37: NC_000010.10:g.(?_56914138)_(57213026_?)del	copy number loss	unknown	not provided	Benign	ClinVar	RCV000737133.2, VCV000600497.2	1

No genotype data were submitted for this variant

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