A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv829498



Internal ID16123454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:73770238..73778904hg38UCSC Ensembl
Innerchr14:74236941..74245607hg19UCSC Ensembl
Innerchr14:73306694..73315360hg18UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg388667
hg198667
hg188667
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv565174
Supporting Variants
Samples
Known GenesELMSAN1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv829498
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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