A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1041402



Internal ID18783933
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:132076412..132441297hg38UCSC Ensembl
Innerchr12:132560957..133017883hg19UCSC Ensembl
Innerchr12:131126910..131527956hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38364886
hg19456927
hg18401047
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3712684
Samples
Known GenesDDX51, EP400, EP400NL, GALNT9, LOC100130238, NOC4L
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1041402
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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