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dbVar

Database of genomic structural variation

nsv3892955

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh37

Variant Calls:2
Validation:Not tested
Clinical Assertions: Yes
Region Size:78,569,196

Description:
See descriptions for individual calls in download files

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: 212741 SVs from 153 studies. See in: genome view

Remapped(Score: Good):23,319,714-101,888,909

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3892955	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000015.10	Chr15	23,319,714	101,888,909
nsv3892955	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000015.9	Chr15	22,770,422	102,429,112

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15150618	copy number gain	Multiple	Multiple	See cases	Pathogenic	ClinVar	RCV000510717.2, VCV000442893.2	3
nssv15150717	copy number gain	Multiple	Multiple	See cases	Pathogenic	ClinVar	RCV000512019.2, VCV000442892.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15150618	Remapped	Good	NC_000015.10:g.(?_ 23319714)_(1018889 09_?)dup	GRCh38.p12	First Pass	NC_000015.10	Chr15	23,319,714	101,888,909
nssv15150717	Remapped	Good	NC_000015.10:g.(?_ 23319714)_(1018889 09_?)dup	GRCh38.p12	First Pass	NC_000015.10	Chr15	23,319,714	101,888,909
nssv15150618	Submitted genomic		NC_000015.9:g.(?_2 2770422)_(10242911 2_?)dup	GRCh37 (hg19)		NC_000015.9	Chr15	22,770,422	102,429,112
nssv15150717	Submitted genomic		NC_000015.9:g.(?_2 2770422)_(10242911 2_?)dup	GRCh37 (hg19)		NC_000015.9	Chr15	22,770,422	102,429,112

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
nssv15150618	GRCh37: NC_000015.9:g.(?_22770422)_(102429112_?)dup	copy number gain	not provided	See cases	Pathogenic	ClinVar	RCV000510717.2, VCV000442893.2	3
nssv15150717	GRCh37: NC_000015.9:g.(?_22770422)_(102429112_?)dup	copy number gain	not provided	See cases	Pathogenic	ClinVar	RCV000512019.2, VCV000442892.2

No genotype data were submitted for this variant

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