A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv521134



Internal ID15101741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:179881314..179983761hg38UCSC Ensembl
Innerchr2:180746041..180848488hg19UCSC Ensembl
Innerchr2:180454286..180556733hg18UCSC Ensembl
Innerchr2:180571547..180673994hg17UCSC Ensembl
Cytoband2q31.3
Allele length
AssemblyAllele length
hg38102448
hg19102448
hg18102448
hg17102448
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv682679, nssv682806
Samples
Known GenesCWC22
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv521134
Frequency
Sample Size2026
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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