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dbVar

Database of genomic structural variation

nsv3916249

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:78,603,811

Description:NCBI36/hg18 15q11.2-26.3(chr15:21173967-26198813)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: 212944 SVs from 153 studies. See in: genome view

Remapped(Score: Good):23,377,379-101,981,189

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop	Outer Stop
nsv3916249	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000015.10	Chr15	23,377,379	101,981,189	101,981,189
nsv3916249	Remapped	Good	GRCh37.p13	Primary Assembly	First Pass	NC_000015.9	Chr15	23,622,526	102,521,392	102,521,392
nsv3916249	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000015.8	Chr15	21,173,967	26,198,813	100,338,915

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15127755	copy number loss	Multiple	Multiple	See cases	Pathogenic	ClinVar	RCV000452010.2, VCV000402084.2	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop	Outer Stop
nssv15127755	Remapped	Good	NC_000015.10:g.(?_ 23377379)_(1019811 89_101981189)del	GRCh38.p12	First Pass	NC_000015.10	Chr15	23,377,379	101,981,189	101,981,189
nssv15127755	Remapped	Good	NC_000015.9:g.(?_2 3622526)_(10252139 2_102521392)del	GRCh37.p13	First Pass	NC_000015.9	Chr15	23,622,526	102,521,392	102,521,392
nssv15127755	Submitted genomic		NC_000015.8:g.(?_2 1173967)_(26198813 _100338915)del	NCBI36 (hg18)		NC_000015.8	Chr15	21,173,967	26,198,813	100,338,915

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
nssv15127755	NCBI36: NC_000015.8:g.(?_21173967)_(26198813_100338915)del	copy number loss	not provided	See cases	Pathogenic	ClinVar	RCV000452010.2, VCV000402084.2	1

No genotype data were submitted for this variant

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