A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1044049



Internal ID19133268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:39451276..39529006hg38UCSC Ensembl
Innerchr12:39845078..39922808hg19UCSC Ensembl
Innerchr12:38131345..38209075hg18UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3877731
hg1977731
hg1877731
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3523097
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1044049
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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