A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1045297



Internal ID19134516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:45162057..45286789hg38UCSC Ensembl
Innerchr14:45631260..45755992hg19UCSC Ensembl
Innerchr14:44701010..44825742hg18UCSC Ensembl
Cytoband14q21.2
Allele length
AssemblyAllele length
hg38124733
hg19124733
hg18124733
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3530442
Samples
Known GenesFANCM, MIS18BP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1045297
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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