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dbVar

Database of genomic structural variation

nsv3889126

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:125,601

Description:GRCh37/hg19 1p34.1(chr1:45923445-46017520)x1 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: 582 SVs from 60 studies. See in: genome view

Remapped(Score: Perfect):45,440,323-45,565,923

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
nsv3889126	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	45,440,323	45,457,773	45,551,848	45,565,923
nsv3889126	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	45,905,995	45,923,445	46,017,520	46,031,595

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15151823	copy number loss	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV000681440.2, VCV000561978.2	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
nssv15151823	Remapped	Perfect	NC_000001.11:g.(45 440323_45457773)_( 45551848_45565923) del	GRCh38.p12	First Pass	NC_000001.11	Chr1	45,440,323	45,457,773	45,551,848	45,565,923
nssv15151823	Submitted genomic		NC_000001.10:g.(45 905995_45923445)_( 46017520_46031595) del	GRCh37 (hg19)		NC_000001.10	Chr1	45,905,995	45,923,445	46,017,520	46,031,595

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
nssv15151823	GRCh37: NC_000001.10:g.(45905995_45923445)_(46017520_46031595)del	copy number loss	unknown	not provided	Uncertain significance	ClinVar	RCV000681440.2, VCV000561978.2	1

No genotype data were submitted for this variant

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