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dbVar

Database of genomic structural variation

nsv3905447

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:133,136,696

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: 366086 SVs from 145 studies. See in: genome view

Remapped(Score: Good):64,621-133,201,316

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3905447	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000012.12	Chr12	64,621	133,201,316
nsv3905447	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000012.11	Chr12	173,787	133,777,902

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15161414	copy number gain	Multiple	Multiple	See cases	Pathogenic	ClinVar	RCV000510482.2, VCV000441983.2	3
nssv15161422	copy number gain	Multiple	Multiple	See cases	Pathogenic	ClinVar	RCV000511643.2, VCV000441984.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15161414	Remapped	Good	NC_000012.12:g.(?_ 64621)_(133201316_ ?)dup	GRCh38.p12	First Pass	NC_000012.12	Chr12	64,621	133,201,316
nssv15161422	Remapped	Good	NC_000012.12:g.(?_ 64621)_(133201316_ ?)dup	GRCh38.p12	First Pass	NC_000012.12	Chr12	64,621	133,201,316
nssv15161414	Submitted genomic		NC_000012.11:g.(?_ 173787)_(133777902 _?)dup	GRCh37 (hg19)		NC_000012.11	Chr12	173,787	133,777,902
nssv15161422	Submitted genomic		NC_000012.11:g.(?_ 173787)_(133777902 _?)dup	GRCh37 (hg19)		NC_000012.11	Chr12	173,787	133,777,902

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
nssv15161414	GRCh37: NC_000012.11:g.(?_173787)_(133777902_?)dup	copy number gain	see ClinVar for details	See cases	Pathogenic	ClinVar	RCV000510482.2, VCV000441983.2	3
nssv15161422	GRCh37: NC_000012.11:g.(?_173787)_(133777902_?)dup	copy number gain	not provided	See cases	Pathogenic	ClinVar	RCV000511643.2, VCV000441984.2

No genotype data were submitted for this variant

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