Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

nsv6112726

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:6,236,407

Description:GRCh37/hg19 6q23.2-24.1(chr6:133810210-140046615)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: 14397 SVs from 119 studies. See in: genome view

Remapped(Score: Perfect):133,489,072-139,725,478

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6112726	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	133,489,072	139,725,478
nsv6112726	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	133,810,210	140,046,615

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv17650006	copy number loss	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV001537931.4, VCV001180549.4	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17650006	Remapped	Perfect	NC_000006.12:g.133 489072_139725478de l	GRCh38.p12	First Pass	NC_000006.12	Chr6	133,489,072	139,725,478
nssv17650006	Submitted genomic		NC_000006.11:g.133 810210_140046615de l	GRCh37 (hg19)		NC_000006.11	Chr6	133,810,210	140,046,615

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
nssv17650006	GRCh37: NC_000006.11:g.133810210_140046615del	copy number loss	unknown	not provided	Pathogenic	ClinVar	RCV001537931.4, VCV001180549.4	1

No genotype data were submitted for this variant

You are here: NCBI