A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1039554



Internal ID18782085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:80646823..80689991hg38UCSC Ensembl
Innerchr14:81113167..81156335hg19UCSC Ensembl
Innerchr14:80182920..80226088hg18UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg3843169
hg1943169
hg1843169
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1944n100
Supporting Variantsnssv3531223
Samples
Known GenesCEP128
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1039554
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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