A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1045923



Internal ID18788454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:120644400..120708416hg38UCSC Ensembl
Innerchr12:121082203..121146219hg19UCSC Ensembl
Innerchr12:119566586..119630602hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3864017
hg1964017
hg1864017
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3526088
Samples
Known GenesCABP1, MLEC
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1045923
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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