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dbVar

Database of genomic structural variation

nsv3886123

Organism: Homo sapiens

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

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:960,482

Description:GRCh37/hg19 1p34.3(chr1:37766562-38727114)x3 AND See cases

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: 2605 SVs from 85 studies. See in: genome view

Remapped(Score: Good):37,300,961-38,261,442

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3886123	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	37,300,961	38,261,442
nsv3886123	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	37,766,562	38,727,114

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15142145	copy number gain	Multiple	Multiple	See cases	Likely benign	ClinVar	RCV000511268.2, VCV000443349.2	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15142145	Remapped	Good	NC_000001.11:g.(?_ 37300961)_(3826144 2_?)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	37,300,961	38,261,442
nssv15142145	Submitted genomic		NC_000001.10:g.(?_ 37766562)_(3872711 4_?)dup	GRCh37 (hg19)		NC_000001.10	Chr1	37,766,562	38,727,114

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
nssv15142145	GRCh37: NC_000001.10:g.(?_37766562)_(38727114_?)dup	copy number gain	maternal	See cases	Likely benign	ClinVar	RCV000511268.2, VCV000443349.2	3

No genotype data were submitted for this variant

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