A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012897



Internal ID18755429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:32410204..33110441hg38UCSC Ensembl
Innerchr2:32635272..33335508hg19UCSC Ensembl
Innerchr2:32488776..33189012hg18UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg38700238
hg19700237
hg18700237
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3749n100
Supporting Variantsnssv3579169
Samples
Known GenesBIRC6, LINC00486, LOC100271832, LTBP1, MIR4765, MIR558, TTC27
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1012897
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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