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dbVar

Database of genomic structural variation

nsv3915923

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:18,235,322

Description:NCBI36/hg18 9q33.1-34.3(chr9:121706881-140129094)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: 61092 SVs from 138 studies. See in: genome view

Remapped(Score: Good):119,882,620-138,117,941

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nsv3915923	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000009.12	Chr9	119,882,620	119,882,620	138,117,941	138,117,941
nsv3915923	Remapped	Good	GRCh37.p13	Primary Assembly	First Pass	NC_000009.11	Chr9	122,644,898	122,644,898	141,012,393	141,012,393
nsv3915923	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000009.10	Chr9	121,684,719	121,706,881	140,129,094	140,132,214

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15128892	copy number gain	Multiple	Multiple	See cases	Pathogenic	ClinVar	RCV000452617.2, VCV000401964.2	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nssv15128892	Remapped	Good	NC_000009.12:g.(11 9882620_119882620) _(138117941_138117 941)dup	GRCh38.p12	First Pass	NC_000009.12	Chr9	119,882,620	119,882,620	138,117,941	138,117,941
nssv15128892	Remapped	Good	NC_000009.11:g.(12 2644898_122644898) _(141012393_141012 393)dup	GRCh37.p13	First Pass	NC_000009.11	Chr9	122,644,898	122,644,898	141,012,393	141,012,393
nssv15128892	Submitted genomic		NC_000009.10:g.(12 1684719_121706881) _(140129094_140132 214)dup	NCBI36 (hg18)		NC_000009.10	Chr9	121,684,719	121,706,881	140,129,094	140,132,214

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
nssv15128892	NCBI36: NC_000009.10:g.(121684719_121706881)_(140129094_140132214)dup	copy number gain	not provided	See cases	Pathogenic	ClinVar	RCV000452617.2, VCV000401964.2	3

No genotype data were submitted for this variant

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