A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1007653



Internal ID19096872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:119937141..120045067hg38UCSC Ensembl
Innerchr2:120694717..120802643hg19UCSC Ensembl
Innerchr2:120411187..120519113hg18UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg38107927
hg19107927
hg18107927
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3729219
Samples
Known GenesEPB41L5, PTPN4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1007653
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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