A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1053437



Internal ID18795968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:44763066..44955019hg38UCSC Ensembl
Innerchr14:45232269..45424222hg19UCSC Ensembl
Innerchr14:44302019..44493972hg18UCSC Ensembl
Cytoband14q21.2
Allele length
AssemblyAllele length
hg38191954
hg19191954
hg18191954
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3713466
Samples
Known GenesC14orf28, KLHL28
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1053437
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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