A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3526088



Internal ID18477683
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 StatusS
Merged Variantsnsv1045923
Supporting Variants
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)nssv3526088
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer