A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1043369



Internal ID18785900
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:66518523..66573969hg38UCSC Ensembl
Innerchr14:66985241..67040687hg19UCSC Ensembl
Innerchr14:66054994..66110440hg18UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg3855447
hg1955447
hg1855447
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1927n100
Supporting Variantsnssv3531088
Samples
Known GenesGPHN
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1043369
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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