A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1047623



Internal ID18790154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:38794015..39146137hg38UCSC Ensembl
Innerchr12:39187817..39539939hg19UCSC Ensembl
Innerchr12:37474084..37826206hg18UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38352123
hg19352123
hg18352123
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3523096
Samples
Known GenesCPNE8
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1047623
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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