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dbVar

Database of genomic structural variation

nsv3920257

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:7,266,798

Description:NCBI36/hg18 2q31.1-31.3(chr2:173732236-180941354)x1 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: 17415 SVs from 119 studies. See in: genome view

Remapped(Score: Perfect):173,137,872-180,404,669

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nsv3920257	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	173,137,872	173,137,872	180,404,669	180,404,669
nsv3920257	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000002.11	Chr2	174,002,600	174,002,600	181,269,396	181,269,396
nsv3920257	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000002.10	Chr2	173,710,846	173,732,236	180,941,354	180,977,641

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15129038	copy number loss	Multiple	Multiple	See cases	Pathogenic	ClinVar	RCV000453939.2, VCV000400797.2	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nssv15129038	Remapped	Perfect	NC_000002.12:g.(17 3137872_173137872) _(180404669_180404 669)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	173,137,872	173,137,872	180,404,669	180,404,669
nssv15129038	Remapped	Perfect	NC_000002.11:g.(17 4002600_174002600) _(181269396_181269 396)del	GRCh37.p13	First Pass	NC_000002.11	Chr2	174,002,600	174,002,600	181,269,396	181,269,396
nssv15129038	Submitted genomic		NC_000002.10:g.(17 3710846_173732236) _(180941354_180977 641)del	NCBI36 (hg18)		NC_000002.10	Chr2	173,710,846	173,732,236	180,941,354	180,977,641

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
nssv15129038	NCBI36: NC_000002.10:g.(173710846_173732236)_(180941354_180977641)del	copy number loss	not provided	See cases	Pathogenic	ClinVar	RCV000453939.2, VCV000400797.2	1

No genotype data were submitted for this variant

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