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dbVar

Database of genomic structural variation

nsv3915150

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:31,834,801

Description:NCBI36/hg18 6q22.31-25.3(chr6:124322082-156156864)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: 74559 SVs from 134 studies. See in: genome view

Remapped(Score: Perfect):123,959,238-155,794,038

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3915150	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	123,959,238	155,794,038
nsv3915150	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000006.11	Chr6	124,280,383	156,115,172
nsv3915150	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000006.10	Chr6	124,322,082	156,156,864

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15142088	copy number gain	Multiple	Multiple	See cases	Pathogenic	ClinVar	RCV000511051.2, VCV000443698.2	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15142088	Remapped	Perfect	NC_000006.12:g.(?_ 123959238)_(155794 038_?)dup	GRCh38.p12	First Pass	NC_000006.12	Chr6	123,959,238	155,794,038
nssv15142088	Remapped	Perfect	NC_000006.11:g.(?_ 124280383)_(156115 172_?)dup	GRCh37.p13	First Pass	NC_000006.11	Chr6	124,280,383	156,115,172
nssv15142088	Submitted genomic		NC_000006.10:g.(?_ 124322082)_(156156 864_?)dup	NCBI36 (hg18)		NC_000006.10	Chr6	124,322,082	156,156,864

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
nssv15142088	NCBI36: NC_000006.10:g.(?_124322082)_(156156864_?)dup	copy number gain	not provided	See cases	Pathogenic	ClinVar	RCV000511051.2, VCV000443698.2	3

No genotype data were submitted for this variant

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