A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1007492



Internal ID18750023
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:169653919..169776297hg38UCSC Ensembl
Innerchr2:170510429..170632807hg19UCSC Ensembl
Innerchr2:170218675..170341053hg18UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38122379
hg19122379
hg18122379
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3583032
Samples
Known GenesCCDC173, KLHL23, 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)nsv1007492
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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