A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1008665



Internal ID18751196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:159163999..159322188hg38UCSC Ensembl
Innerchr2:160020510..160178699hg19UCSC Ensembl
Innerchr2:159728756..159886945hg18UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg38158190
hg19158190
hg18158190
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3582985
Samples
Known GenesBAZ2B, MIR6888, TANC1, WDSUB1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1008665
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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