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dbVar

Database of genomic structural variation

nsv3891903

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:451,286

Description:GRCh37/hg19 13q21.1(chr13:55522372-55973657)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: 1448 SVs from 81 studies. See in: genome view

Remapped(Score: Perfect):54,948,237-55,399,522

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3891903	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000013.11	Chr13	54,948,237	55,399,522
nsv3891903	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000013.10	Chr13	55,522,372	55,973,657

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15171296	copy number loss	Multiple	Multiple	not provided	Benign	ClinVar	RCV000750726.2, VCV000614090.2	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15171296	Remapped	Perfect	NC_000013.11:g.(?_ 54948237)_(5539952 2_?)del	GRCh38.p12	First Pass	NC_000013.11	Chr13	54,948,237	55,399,522
nssv15171296	Submitted genomic		NC_000013.10:g.(?_ 55522372)_(5597365 7_?)del	GRCh37 (hg19)		NC_000013.10	Chr13	55,522,372	55,973,657

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
nssv15171296	GRCh37: NC_000013.10:g.(?_55522372)_(55973657_?)del	copy number loss	unknown	not provided	Benign	ClinVar	RCV000750726.2, VCV000614090.2	1

No genotype data were submitted for this variant

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