A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1008598



Internal ID19097815
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:240686640..240760466hg38UCSC Ensembl
Innerchr2:241626057..241699883hg19UCSC Ensembl
Innerchr2:241274730..241348556hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3873827
hg1973827
hg1873827
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4198n100
Supporting Variantsnssv3729386
Samples
Known GenesAQP12A, KIF1A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1008598
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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