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dbVar

Database of genomic structural variation

nsv3901714

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh37

Variant Calls:3
Validation:Not tested
Clinical Assertions: Yes
Region Size:34,618,283

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: 107018 SVs from 140 studies. See in: genome view

Remapped(Score: Good):64,620-34,682,902

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3901714	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000012.12	Chr12	64,620	34,682,902
nsv3901714	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000012.11	Chr12	173,786	34,835,837

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15154626	copy number gain	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV000683478.1, VCV000563989.1
nssv15155403	copy number gain	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV000683479.1, VCV000563990.1	3
nssv17969493	copy number gain	Multiple	Multiple	not specified	Pathogenic	ClinVar	RCV002052957.3, VCV001527671.3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15154626	Remapped	Good	NC_000012.12:g.(?_ 64620)_(34682902_? )dup	GRCh38.p12	First Pass	NC_000012.12	Chr12	64,620	34,682,902
nssv15155403	Remapped	Good	NC_000012.12:g.(?_ 64620)_(34682902_? )dup	GRCh38.p12	First Pass	NC_000012.12	Chr12	64,620	34,682,902
nssv17969493	Remapped	Good	NC_000012.12:g.(?_ 64620)_(34682902_? )dup	GRCh38.p12	First Pass	NC_000012.12	Chr12	64,620	34,682,902
nssv15154626	Submitted genomic		NC_000012.11:g.(?_ 173786)_(34835837_ ?)dup	GRCh37 (hg19)		NC_000012.11	Chr12	173,786	34,835,837
nssv15155403	Submitted genomic		NC_000012.11:g.(?_ 173786)_(34835837_ ?)dup	GRCh37 (hg19)		NC_000012.11	Chr12	173,786	34,835,837
nssv17969493	Submitted genomic		NC_000012.11:g.(?_ 173786)_(34835837_ ?)dup	GRCh37 (hg19)		NC_000012.11	Chr12	173,786	34,835,837

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
nssv15154626	GRCh37: NC_000012.11:g.(?_173786)_(34835837_?)dup	copy number gain	germline	not provided	Pathogenic	ClinVar	RCV000683478.1, VCV000563989.1
nssv15155403	GRCh37: NC_000012.11:g.(?_173786)_(34835837_?)dup	copy number gain	germline	not provided	Pathogenic	ClinVar	RCV000683479.1, VCV000563990.1	3
nssv17969493	GRCh37: NC_000012.11:g.(?_173786)_(34835837_?)dup	copy number gain	germline	not specified	Pathogenic	ClinVar	RCV002052957.3, VCV001527671.3

No genotype data were submitted for this variant

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