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dbVar

Database of genomic structural variation

nsv3887898

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:170,453,420

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: 464192 SVs from 153 studies. See in: genome view

Remapped(Score: Good):156,975-170,610,394

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3887898	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	156,975	170,610,394
nsv3887898	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	156,975	170,919,482

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15161859	copy number gain	Multiple	Multiple	See cases	Pathogenic	ClinVar	RCV000510595.2, VCV000443497.2
nssv15161868	copy number gain	Multiple	Multiple	See cases	Pathogenic	ClinVar	RCV000512067.2, VCV000443496.2	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15161859	Remapped	Good	NC_000006.12:g.(?_ 156975)_(170610394 _?)dup	GRCh38.p12	First Pass	NC_000006.12	Chr6	156,975	170,610,394
nssv15161868	Remapped	Good	NC_000006.12:g.(?_ 156975)_(170610394 _?)dup	GRCh38.p12	First Pass	NC_000006.12	Chr6	156,975	170,610,394
nssv15161859	Submitted genomic		NC_000006.11:g.(?_ 156975)_(170919482 _?)dup	GRCh37 (hg19)		NC_000006.11	Chr6	156,975	170,919,482
nssv15161868	Submitted genomic		NC_000006.11:g.(?_ 156975)_(170919482 _?)dup	GRCh37 (hg19)		NC_000006.11	Chr6	156,975	170,919,482

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
nssv15161859	GRCh37: NC_000006.11:g.(?_156975)_(170919482_?)dup	copy number gain	not provided	See cases	Pathogenic	ClinVar	RCV000510595.2, VCV000443497.2
nssv15161868	GRCh37: NC_000006.11:g.(?_156975)_(170919482_?)dup	copy number gain	not provided	See cases	Pathogenic	ClinVar	RCV000512067.2, VCV000443496.2	3

No genotype data were submitted for this variant

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