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dbVar

Database of genomic structural variation

nsv3920796

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:35,373,288

Description:NCBI36/hg18 10p15.3-11.21(chr10:62842-35709057)x3 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: 106854 SVs from 136 studies. See in: genome view

Remapped(Score: Good):26,906-35,400,193

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop	Outer Stop
nsv3920796	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000010.11	Chr10	26,906	35,400,193	35,400,193
nsv3920796	Remapped	Good	GRCh37.p13	Primary Assembly	First Pass	NC_000010.10	Chr10	72,842	35,689,121	35,689,121
nsv3920796	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000010.9	Chr10	62,842	35,709,057	35,729,127

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15127811	copy number gain	Multiple	Multiple	See cases	Pathogenic	ClinVar	RCV000452171.2, VCV000400787.2	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop	Outer Stop
nssv15127811	Remapped	Good	NC_000010.11:g.(?_ 26906)_(35400193_3 5400193)dup	GRCh38.p12	First Pass	NC_000010.11	Chr10	26,906	35,400,193	35,400,193
nssv15127811	Remapped	Good	NC_000010.10:g.(?_ 72842)_(35689121_3 5689121)dup	GRCh37.p13	First Pass	NC_000010.10	Chr10	72,842	35,689,121	35,689,121
nssv15127811	Submitted genomic		NC_000010.9:g.(?_6 2842)_(35709057_35 729127)dup	NCBI36 (hg18)		NC_000010.9	Chr10	62,842	35,709,057	35,729,127

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
nssv15127811	NCBI36: NC_000010.9:g.(?_62842)_(35709057_35729127)dup	copy number gain	not provided	See cases	Pathogenic	ClinVar	RCV000452171.2, VCV000400787.2	3

No genotype data were submitted for this variant

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