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dbVar

Database of genomic structural variation

nsv3912247

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:138,250,048

Description:NCBI36/hg18 9p24.3-q34.3(chr9:2934-140241935)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: 327306 SVs from 149 studies. See in: genome view

Remapped(Score: Good):12,934-138,262,981

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop	Outer Stop
nsv3912247	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000009.12	Chr9	12,934	138,262,981	138,262,981
nsv3912247	Remapped	Good	GRCh37.p13	Primary Assembly	First Pass	NC_000009.11	Chr9	12,934	141,153,431	141,153,431
nsv3912247	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000009.10	Chr9	2,934	140,241,935	140,273,252

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15128159	copy number gain	Multiple	Multiple	See cases	Pathogenic	ClinVar	RCV000452438.2, VCV000400183.2	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop	Outer Stop
nssv15128159	Remapped	Good	NC_000009.12:g.(?_ 12934)_(138262981_ 138262981)dup	GRCh38.p12	First Pass	NC_000009.12	Chr9	12,934	138,262,981	138,262,981
nssv15128159	Remapped	Good	NC_000009.11:g.(?_ 12934)_(141153431_ 141153431)dup	GRCh37.p13	First Pass	NC_000009.11	Chr9	12,934	141,153,431	141,153,431
nssv15128159	Submitted genomic		NC_000009.10:g.(?_ 2934)_(140241935_1 40273252)dup	NCBI36 (hg18)		NC_000009.10	Chr9	2,934	140,241,935	140,273,252

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
nssv15128159	NCBI36: NC_000009.10:g.(?_2934)_(140241935_140273252)dup	copy number gain	not provided	See cases	Pathogenic	ClinVar	RCV000452438.2, VCV000400183.2	3

No genotype data were submitted for this variant

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