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dbVar

Database of genomic structural variation

nsv7096893

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:156,082

Description:NC_000002.11:g.(?_55459961)_(55616042_?)dup 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: 639 SVs from 55 studies. See in: genome view

Remapped(Score: Perfect):55,232,825-55,388,906

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7096893	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	55,232,825	55,388,906
nsv7096893	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	55,459,961	55,616,042

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18791598	duplication	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV003105496.2, VCV002423802.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18791598	Remapped	Perfect	NC_000002.12:g.(?_ 55232825)_(5538890 6_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	55,232,825	55,388,906
nssv18791598	Submitted genomic		NC_000002.11:g.(?_ 55459961)_(5561604 2_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	55,459,961	55,616,042

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
nssv18791598	GRCh37: NC_000002.11:g.(?_55459961)_(55616042_?)dup	duplication	germline	not provided	Uncertain significance	ClinVar	RCV003105496.2, VCV002423802.2

No genotype data were submitted for this variant

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