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dbVar

Database of genomic structural variation

nsv3895066

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:4,033,656

Description:GRCh37/hg19 19q13.12-13.2(chr19:37582250-41630908)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: 14040 SVs from 124 studies. See in: genome view

Remapped(Score: Good):37,091,348-41,125,003

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3895066	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000019.10	Chr19	37,091,348	41,125,003
nsv3895066	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000019.9	Chr19	37,582,250	41,630,908

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15123473	copy number gain	Multiple	Multiple	See cases	Pathogenic	ClinVar	RCV000239839.2, VCV000253452.2	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15123473	Remapped	Good	NC_000019.10:g.(?_ 37091348)_(4112500 3_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	37,091,348	41,125,003
nssv15123473	Submitted genomic		NC_000019.9:g.(?_3 7582250)_(41630908 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	37,582,250	41,630,908

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
nssv15123473	GRCh37: NC_000019.9:g.(?_37582250)_(41630908_?)dup	copy number gain	unknown	See cases	Pathogenic	ClinVar	RCV000239839.2, VCV000253452.2	3

No genotype data were submitted for this variant

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