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dbVar

Database of genomic structural variation

nsv4457200

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:67,715,659

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: 137148 SVs from 143 studies. See in: genome view

Remapped(Score: Good):203,861-67,919,519

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4457200	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000009.12	Chr9	203,861	67,919,519
nsv4457200	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000009.11	Chr9	203,861	67,986,965

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15777272	copy number gain	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV000845815.2, VCV000685107.2	3
nssv17976989	copy number gain	Multiple	Multiple	Tetrasomy 9p	Pathogenic	ClinVar	RCV002280656.1, VCV001703570.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15777272	Remapped	Good	NC_000009.12:g.(?_ 203861)_(67919519_ ?)dup	GRCh38.p12	First Pass	NC_000009.12	Chr9	203,861	67,919,519
nssv17976989	Remapped	Good	NC_000009.12:g.(?_ 203861)_(67919519_ ?)dup	GRCh38.p12	First Pass	NC_000009.12	Chr9	203,861	67,919,519
nssv15777272	Submitted genomic		NC_000009.11:g.(?_ 203861)_(67986965_ ?)dup	GRCh37 (hg19)		NC_000009.11	Chr9	203,861	67,986,965
nssv17976989	Submitted genomic		NC_000009.11:g.(?_ 203861)_(67986965_ ?)dup	GRCh37 (hg19)		NC_000009.11	Chr9	203,861	67,986,965

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
nssv15777272	GRCh37: NC_000009.11:g.(?_203861)_(67986965_?)dup	copy number gain	unknown	not provided	Pathogenic	ClinVar	RCV000845815.2, VCV000685107.2	3
nssv17976989	GRCh37: NC_000009.11:g.(?_203861)_(67986965_?)dup	copy number gain	unknown	Tetrasomy 9p	Pathogenic	ClinVar	RCV002280656.1, VCV001703570.1

No genotype data were submitted for this variant

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