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dbVar

Database of genomic structural variation

nsv3921366

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:NCBI36

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:185,417

Description:NCBI36/hg18 3p21.1(chr3:52655363-52778473)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: 596 SVs from 67 studies. See in: genome view

Remapped(Score: Perfect):52,623,610-52,809,026

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nsv3921366	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	52,623,610	52,646,307	52,769,417	52,809,026
nsv3921366	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000003.11	Chr3	52,657,626	52,680,323	52,803,433	52,843,042
nsv3921366	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000003.10	Chr3	52,632,666	52,655,363	52,778,473	52,818,082

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15128218	copy number gain	Multiple	Multiple	See cases	Uncertain significance	ClinVar	RCV000453010.2, VCV000399234.2	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nssv15128218	Remapped	Perfect	NC_000003.12:g.(52 623610_52646307)_( 52769417_52809026) dup	GRCh38.p12	First Pass	NC_000003.12	Chr3	52,623,610	52,646,307	52,769,417	52,809,026
nssv15128218	Remapped	Perfect	NC_000003.11:g.(52 657626_52680323)_( 52803433_52843042) dup	GRCh37.p13	First Pass	NC_000003.11	Chr3	52,657,626	52,680,323	52,803,433	52,843,042
nssv15128218	Submitted genomic		NC_000003.10:g.(52 632666_52655363)_( 52778473_52818082) dup	NCBI36 (hg18)		NC_000003.10	Chr3	52,632,666	52,655,363	52,778,473	52,818,082

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
nssv15128218	NCBI36: NC_000003.10:g.(52632666_52655363)_(52778473_52818082)dup	copy number gain	not provided	See cases	Uncertain significance	ClinVar	RCV000453010.2, VCV000399234.2	3

No genotype data were submitted for this variant

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