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dbVar

Database of genomic structural variation

nsv3918770

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:78,661,476

Description:NCBI36/hg18 15q11.2-26.3(chr15:20280728-20641805)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: 213082 SVs from 153 studies. See in: genome view

Remapped(Score: Good):23,319,714-101,981,189

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop	Outer Stop
nsv3918770	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000015.10	Chr15	23,319,714	101,981,189	101,981,189
nsv3918770	Remapped	Good	GRCh37.p13	Primary Assembly	First Pass	NC_000015.9	Chr15	22,729,364	102,521,392	102,521,392
nsv3918770	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000015.8	Chr15	20,280,728	20,641,805	100,338,915

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15128063	copy number loss	Multiple	Multiple	See cases	Uncertain significance	ClinVar	RCV000452077.2, VCV000399064.2	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop	Outer Stop
nssv15128063	Remapped	Good	NC_000015.10:g.(?_ 23319714)_(1019811 89_101981189)del	GRCh38.p12	First Pass	NC_000015.10	Chr15	23,319,714	101,981,189	101,981,189
nssv15128063	Remapped	Good	NC_000015.9:g.(?_2 2729364)_(10252139 2_102521392)del	GRCh37.p13	First Pass	NC_000015.9	Chr15	22,729,364	102,521,392	102,521,392
nssv15128063	Submitted genomic		NC_000015.8:g.(?_2 0280728)_(20641805 _100338915)del	NCBI36 (hg18)		NC_000015.8	Chr15	20,280,728	20,641,805	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
nssv15128063	NCBI36: NC_000015.8:g.(?_20280728)_(20641805_100338915)del	copy number loss	not provided	See cases	Uncertain significance	ClinVar	RCV000452077.2, VCV000399064.2	1

No genotype data were submitted for this variant

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