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dbVar

Database of genomic structural variation

nsv7095532

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:18,711

Description:NC_000001.10:g.(?_45966005)_(45984715_?)del 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: 187 SVs from 46 studies. See in: genome view

Remapped(Score: Perfect):45,500,333-45,519,043

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7095532	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	45,500,333	45,519,043
nsv7095532	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	45,966,005	45,984,715

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18787571	deletion	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV003122569.2, VCV002424483.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18787571	Remapped	Perfect	NC_000001.11:g.(?_ 45500333)_(4551904 3_?)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	45,500,333	45,519,043
nssv18787571	Submitted genomic		NC_000001.10:g.(?_ 45966005)_(4598471 5_?)del	GRCh37 (hg19)		NC_000001.10	Chr1	45,966,005	45,984,715

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
nssv18787571	GRCh37: NC_000001.10:g.(?_45966005)_(45984715_?)del	deletion	germline	not provided	Uncertain significance	ClinVar	RCV003122569.2, VCV002424483.2

No genotype data were submitted for this variant

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