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dbVar

Database of genomic structural variation

nsv6290289

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:8,030,306

Description:GRCh37/hg19 16p12.2-11.2(chr16:21594997-29625302)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: 23165 SVs from 141 studies. See in: genome view

Remapped(Score: Perfect):21,583,676-29,613,981

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6290289	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000016.10	Chr16	21,583,676	29,613,981
nsv6290289	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000016.9	Chr16	21,594,997	29,625,302

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv17955938	copy number loss	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV001795549.4, VCV001328113.4	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17955938	Remapped	Perfect	NC_000016.10:g.215 83676_29613981del	GRCh38.p12	First Pass	NC_000016.10	Chr16	21,583,676	29,613,981
nssv17955938	Submitted genomic		NC_000016.9:g.2159 4997_29625302del	GRCh37 (hg19)		NC_000016.9	Chr16	21,594,997	29,625,302

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
nssv17955938	GRCh37: NC_000016.9:g.21594997_29625302del	copy number loss	unknown	not provided	Pathogenic	ClinVar	RCV001795549.4, VCV001328113.4	1

No genotype data were submitted for this variant

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