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

dbVar

Database of genomic structural variation

nsv6634331

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:695,729

Description:GRCh37/hg19 4q21.22-21.23(chr4:84048377-84744105)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: 2189 SVs from 82 studies. See in: genome view

Remapped(Score: Perfect):83,127,224-83,822,952

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nsv6634331	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	83,127,224	83,822,952
nsv6634331	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	84,048,377	84,744,105

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv18326423	copy number loss	Multiple	Multiple	See cases	Pathogenic	ClinVar	RCV002287566.1, VCV001708193.1	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nssv18326423	Remapped	Perfect	NC_000004.12:g.(83 127224_?)_(?_83822 952)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	83,127,224	83,822,952
nssv18326423	Submitted genomic		NC_000004.11:g.(84 048377_?)_(?_84744 105)del	GRCh37 (hg19)		NC_000004.11	Chr4	84,048,377	84,744,105

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
nssv18326423	GRCh37: NC_000004.11:g.(84048377_?)_(?_84744105)del	copy number loss	unknown	See cases	Pathogenic	ClinVar	RCV002287566.1, VCV001708193.1	1

No genotype data were submitted for this variant

You are here: NCBI