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dbVar

Database of genomic structural variation

nsv3902271

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:133,559,553

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: 363522 SVs from 148 studies. See in: genome view

Remapped(Score: Good):54,087-133,613,639

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3902271	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000010.11	Chr10	54,087	133,613,639
nsv3902271	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000010.10	Chr10	100,027	135,427,143

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15161670	copy number gain	Multiple	Multiple	See cases	Pathogenic	ClinVar	RCV000510861.2, VCV000441986.2	3
nssv15161864	copy number gain	Multiple	Multiple	See cases	Pathogenic	ClinVar	RCV000511389.2, VCV000441987.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15161670	Remapped	Good	NC_000010.11:g.(?_ 54087)_(133613639_ ?)dup	GRCh38.p12	First Pass	NC_000010.11	Chr10	54,087	133,613,639
nssv15161864	Remapped	Good	NC_000010.11:g.(?_ 54087)_(133613639_ ?)dup	GRCh38.p12	First Pass	NC_000010.11	Chr10	54,087	133,613,639
nssv15161670	Submitted genomic		NC_000010.10:g.(?_ 100027)_(135427143 _?)dup	GRCh37 (hg19)		NC_000010.10	Chr10	100,027	135,427,143
nssv15161864	Submitted genomic		NC_000010.10:g.(?_ 100027)_(135427143 _?)dup	GRCh37 (hg19)		NC_000010.10	Chr10	100,027	135,427,143

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
nssv15161670	GRCh37: NC_000010.10:g.(?_100027)_(135427143_?)dup	copy number gain	not provided	See cases	Pathogenic	ClinVar	RCV000510861.2, VCV000441986.2	3
nssv15161864	GRCh37: NC_000010.10:g.(?_100027)_(135427143_?)dup	copy number gain	not provided	See cases	Pathogenic	ClinVar	RCV000511389.2, VCV000441987.2

No genotype data were submitted for this variant

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