A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1054718



Internal ID19143937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52452168..52486920hg38UCSC Ensembl
Innerchr12:52845952..52880704hg19UCSC Ensembl
Innerchr12:51132219..51166971hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3834753
hg1934753
hg1834753
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1505n100
Supporting Variantsnssv3523591
Samples
Known GenesKRT6C
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1054718
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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