A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1039645



Internal ID18782176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:39509321..39628227hg38UCSC Ensembl
Innerchr12:39903123..40022029hg19UCSC Ensembl
Innerchr12:38189390..38308296hg18UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38118907
hg19118907
hg18118907
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3523098
Samples
Known GenesABCD2, C12orf40
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1039645
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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