A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000033



Internal ID18742564
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:87259942..87919212hg38UCSC Ensembl
Innerchr2:87487065..88218731hg19UCSC Ensembl
Innerchr2:87340576..87999846hg18UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38659271
hg19731667
hg18659271
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3889n100
Supporting Variantsnssv3582423
Samples
Known GenesLINC00152, MIR4435-1, MIR4435-2, PLGLB1, PLGLB2, RGPD1, RGPD2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1000033
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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