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dbVar

Database of genomic structural variation

nsv6291446

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:4,431,115

Description:GRCh37/hg19 2q23.3-24.1(chr2:154328530-158759642)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: 9645 SVs from 109 studies. See in: genome view

Remapped(Score: Perfect):153,472,016-157,903,130

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6291446	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	153,472,016	157,903,130
nsv6291446	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	154,328,530	158,759,642

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv17956589	copy number loss	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV001827767.1, VCV001340352.1	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17956589	Remapped	Perfect	NC_000002.12:g.(?_ 153472016)_(157903 130_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	153,472,016	157,903,130
nssv17956589	Submitted genomic		NC_000002.11:g.(?_ 154328530)_(158759 642_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	154,328,530	158,759,642

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
nssv17956589	GRCh37: NC_000002.11:g.(?_154328530)_(158759642_?)del	copy number loss	germline	not provided	Pathogenic	ClinVar	RCV001827767.1, VCV001340352.1	1

No genotype data were submitted for this variant

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