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dbVar

Database of genomic structural variation

nsv3913369

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:5,819,110

Description:NCBI36/hg18 3p24.1-22.3(chr3:29230447-34997810)x1 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: 13836 SVs from 109 studies. See in: genome view

Remapped(Score: Perfect):29,189,937-35,009,046

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
nsv3913369	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	29,189,937	29,189,937	35,009,046	35,009,046
nsv3913369	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000003.11	Chr3	29,231,428	29,255,443	35,022,806	35,050,538
nsv3913369	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000003.10	Chr3	29,206,432	29,230,447	34,997,810	35,025,542

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15129565	copy number loss	Multiple	Multiple	See cases	Pathogenic	ClinVar	RCV000452975.2, VCV000401234.2	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nssv15129565	Remapped	Perfect	NC_000003.12:g.(29 189937_29189937)_( 35009046_35009046) del	GRCh38.p12	First Pass	NC_000003.12	Chr3	29,189,937	29,189,937	35,009,046	35,009,046
nssv15129565	Remapped	Perfect	NC_000003.11:g.(29 231428_29255443)_( 35022806_35050538) del	GRCh37.p13	First Pass	NC_000003.11	Chr3	29,231,428	29,255,443	35,022,806	35,050,538
nssv15129565	Submitted genomic		NC_000003.10:g.(29 206432_29230447)_( 34997810_35025542) del	NCBI36 (hg18)		NC_000003.10	Chr3	29,206,432	29,230,447	34,997,810	35,025,542

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
nssv15129565	NCBI36: NC_000003.10:g.(29206432_29230447)_(34997810_35025542)del	copy number loss	not provided	See cases	Pathogenic	ClinVar	RCV000452975.2, VCV000401234.2	1

No genotype data were submitted for this variant

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