A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1006244



Internal ID19095462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:52731184..52942479hg38UCSC Ensembl
Innerchr2:52958322..53169617hg19UCSC Ensembl
Innerchr2:52811826..53023121hg18UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg38211296
hg19211296
hg18211296
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3838n100
Supporting Variantsnssv3576599
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1006244
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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