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dbVar

Database of genomic structural variation

nsv4454966

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:7,349,896

Description:GRCh37/hg19 2p25.3-25.1(chr2:12770-7502796)x3 AND not provided

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: 28405 SVs from 127 studies. See in: genome view

Remapped(Score: Good):12,770-7,362,665

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4454966	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	12,770	7,362,665
nsv4454966	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	12,770	7,502,796

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15775408	copy number gain	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV000847256.2, VCV000686548.2	3
nssv15775409	copy number gain	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV000847257.2, VCV000686549.2	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15775408	Remapped	Good	NC_000002.12:g.(?_ 12770)_(7362665_?) dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	12,770	7,362,665
nssv15775409	Remapped	Good	NC_000002.12:g.(?_ 12770)_(7362665_?) dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	12,770	7,362,665
nssv15775408	Submitted genomic		NC_000002.11:g.(?_ 12770)_(7502796_?) dup	GRCh37 (hg19)		NC_000002.11	Chr2	12,770	7,502,796
nssv15775409	Submitted genomic		NC_000002.11:g.(?_ 12770)_(7502796_?) dup	GRCh37 (hg19)		NC_000002.11	Chr2	12,770	7,502,796

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
nssv15775408	GRCh37: NC_000002.11:g.(?_12770)_(7502796_?)dup	copy number gain	unknown	not provided	Pathogenic	ClinVar	RCV000847256.2, VCV000686548.2	3
nssv15775409	GRCh37: NC_000002.11:g.(?_12770)_(7502796_?)dup	copy number gain	unknown	not provided	Pathogenic	ClinVar	RCV000847257.2, VCV000686549.2	3

No genotype data were submitted for this variant

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