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dbVar

Database of genomic structural variation

nsv3924199

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:NCBI36

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:111,773,310

Description:NCBI36/hg18 2q21.1-37.3(chr2:130861065-131082960)x3 AND See cases

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: 279627 SVs from 149 studies. See in: genome view

Remapped(Score: Good):130,387,022-242,160,331

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop	Outer Stop
nsv3924199	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	130,387,022	242,160,331	242,160,331
nsv3924199	Remapped	Good	GRCh37.p13	Primary Assembly	First Pass	NC_000002.11	Chr2	131,144,595	243,102,476	243,102,476
nsv3924199	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000002.10	Chr2	130,861,065	131,082,960	242,751,149

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15128653	copy number gain	Multiple	Multiple	See cases	Uncertain significance	ClinVar	RCV000452520.2, VCV000398738.2	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop	Outer Stop
nssv15128653	Remapped	Good	NC_000002.12:g.(?_ 130387022)_(242160 331_242160331)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	130,387,022	242,160,331	242,160,331
nssv15128653	Remapped	Good	NC_000002.11:g.(?_ 131144595)_(243102 476_243102476)dup	GRCh37.p13	First Pass	NC_000002.11	Chr2	131,144,595	243,102,476	243,102,476
nssv15128653	Submitted genomic		NC_000002.10:g.(?_ 130861065)_(131082 960_242751149)dup	NCBI36 (hg18)		NC_000002.10	Chr2	130,861,065	131,082,960	242,751,149

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
nssv15128653	NCBI36: NC_000002.10:g.(?_130861065)_(131082960_242751149)dup	copy number gain	not provided	See cases	Uncertain significance	ClinVar	RCV000452520.2, VCV000398738.2	3

No genotype data were submitted for this variant

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