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dbVar

Database of genomic structural variation

nsv7137055

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:271,580

Description:GRCh37/hg19 2p16.3(chr2:50984755-51256334)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: 1259 SVs from 81 studies. See in: genome view

Remapped(Score: Perfect):50,757,617-51,029,196

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7137055	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	50,757,617	51,029,196
nsv7137055	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	50,984,755	51,256,334

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv18830697	copy number loss	Multiple	Multiple	not provided	Likely pathogenic	ClinVar	RCV003312531.1, VCV002571130.2	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18830697	Remapped	Perfect	NC_000002.12:g.(?_ 50757617)_(5102919 6_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	50,757,617	51,029,196
nssv18830697	Submitted genomic		NC_000002.11:g.(?_ 50984755)_(5125633 4_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	50,984,755	51,256,334

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
nssv18830697	GRCh37: NC_000002.11:g.(?_50984755)_(51256334_?)del	copy number loss	germline	not provided	Likely pathogenic	ClinVar	RCV003312531.1, VCV002571130.2	1

No genotype data were submitted for this variant

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