A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1038608



Internal ID19127827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:80237764..80337616hg38UCSC Ensembl
Innerchr12:80631544..80731396hg19UCSC Ensembl
Innerchr12:79155675..79255527hg18UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3899853
hg1999853
hg1899853
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1530n100
Supporting Variantsnssv3524650, nssv3524651
Samples
Known GenesOTOGL
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1038608
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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