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dbVar

Database of genomic structural variation

nsv7098844

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:6,009,064

Description:GRCh37/hg19 2p14-13.3(chr2:65296579-71305638)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: 14917 SVs from 111 studies. See in: genome view

Remapped(Score: Perfect):65,069,445-71,078,508

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7098844	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	65,069,445	71,078,508
nsv7098844	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	65,296,579	71,305,638

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv18792736	copy number loss	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV003223077.2, VCV002498868.3	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18792736	Remapped	Perfect	NC_000002.12:g.(?_ 65069445)_(7107850 8_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	65,069,445	71,078,508
nssv18792736	Submitted genomic		NC_000002.11:g.(?_ 65296579)_(7130563 8_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	65,296,579	71,305,638

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
nssv18792736	GRCh37: NC_000002.11:g.(?_65296579)_(71305638_?)del	copy number loss	germline	not provided	Uncertain significance	ClinVar	RCV003223077.2, VCV002498868.3	1

No genotype data were submitted for this variant

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