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dbVar

Database of genomic structural variation

nsv3910630

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:191,501,038

Description:NCBI36/hg18 2p16.3-q37.3(chr2:50746132-51114218)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: 467683 SVs from 152 studies. See in: genome view

Remapped(Score: Good):50,659,294-242,160,331

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
nsv3910630	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	50,659,294	50,659,294	242,160,331	242,160,331
nsv3910630	Remapped	Good	GRCh37.p13	Primary Assembly	First Pass	NC_000002.11	Chr2	50,886,432	50,886,432	243,102,476	243,102,476
nsv3910630	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000002.10	Chr2	50,739,936	50,746,132	51,114,218	242,751,149

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15124851	copy number loss	Multiple	Multiple	See cases	Pathogenic	ClinVar	RCV000451130.2, VCV000399341.2	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
nssv15124851	Remapped	Good	NC_000002.12:g.(50 659294_50659294)_( 242160331_24216033 1)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	50,659,294	50,659,294	242,160,331	242,160,331
nssv15124851	Remapped	Good	NC_000002.11:g.(50 886432_50886432)_( 243102476_24310247 6)del	GRCh37.p13	First Pass	NC_000002.11	Chr2	50,886,432	50,886,432	243,102,476	243,102,476
nssv15124851	Submitted genomic		NC_000002.10:g.(50 739936_50746132)_( 51114218_242751149 )del	NCBI36 (hg18)		NC_000002.10	Chr2	50,739,936	50,746,132	51,114,218	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
nssv15124851	NCBI36: NC_000002.10:g.(50739936_50746132)_(51114218_242751149)del	copy number loss	not provided	See cases	Pathogenic	ClinVar	RCV000451130.2, VCV000399341.2	1

No genotype data were submitted for this variant

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