A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv564965



Internal ID16352374
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:68925728..68949245hg38UCSC Ensembl
Innerchr14:69392445..69415962hg19UCSC Ensembl
Innerchr14:68462198..68485715hg18UCSC Ensembl
Cytoband14q24.1
Allele length
AssemblyAllele length
hg3823518
hg1923518
hg1823518
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3736n54
Supporting Variantsnssv1149501
Samples1782681216_A
Known GenesACTN1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv564965
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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