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dbVar

Database of genomic structural variation

nsv3895314

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:64,203,275

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: 186134 SVs from 140 studies. See in: genome view

Remapped(Score: Good):80,928-64,284,202

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3895314	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000020.11	Chr20	80,928	64,284,202
nsv3895314	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000020.10	Chr20	61,569	62,915,555

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15161429	copy number gain	Multiple	Multiple	See cases	Pathogenic	ClinVar	RCV000512450.2, VCV000443339.2
nssv15161862	copy number gain	Multiple	Multiple	See cases	Pathogenic	ClinVar	RCV000510832.2, VCV000443340.2	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15161429	Remapped	Good	NC_000020.11:g.(?_ 80928)_(64284202_? )dup	GRCh38.p12	First Pass	NC_000020.11	Chr20	80,928	64,284,202
nssv15161862	Remapped	Good	NC_000020.11:g.(?_ 80928)_(64284202_? )dup	GRCh38.p12	First Pass	NC_000020.11	Chr20	80,928	64,284,202
nssv15161429	Submitted genomic		NC_000020.10:g.(?_ 61569)_(62915555_? )dup	GRCh37 (hg19)		NC_000020.10	Chr20	61,569	62,915,555
nssv15161862	Submitted genomic		NC_000020.10:g.(?_ 61569)_(62915555_? )dup	GRCh37 (hg19)		NC_000020.10	Chr20	61,569	62,915,555

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
nssv15161429	GRCh37: NC_000020.10:g.(?_61569)_(62915555_?)dup	copy number gain	not provided	See cases	Pathogenic	ClinVar	RCV000512450.2, VCV000443339.2
nssv15161862	GRCh37: NC_000020.10:g.(?_61569)_(62915555_?)dup	copy number gain	not provided	See cases	Pathogenic	ClinVar	RCV000510832.2, VCV000443340.2	3

No genotype data were submitted for this variant

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