A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1152952



Internal ID15880499
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:130647993..130828172hg38UCSC Ensembl
Innerchr4:131569148..131749327hg19UCSC Ensembl
Innerchr4:131788598..131968777hg18UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg38180180
hg19180180
hg18180180
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv595422
Supporting Variants
SamplesNINDS_22
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1152952
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer