A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1008726



Internal ID18751257
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:169662117..169696257hg38UCSC Ensembl
Innerchr2:170518627..170552767hg19UCSC Ensembl
Innerchr2:170226873..170261013hg18UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3834141
hg1934141
hg1834141
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3583033
Samples
Known GenesCCDC173, PHOSPHO2, PHOSPHO2-KLHL23
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1008726
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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