A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv565509



Internal ID16006232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:87928587..87955713hg38UCSC Ensembl
Innerchr14:88394931..88422057hg19UCSC Ensembl
Innerchr14:87464684..87491810hg18UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg3827127
hg1927127
hg1827127
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3840n54
Supporting Variantsnssv832168, nssv832169
Samples
Known GenesGALC
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv565509
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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