A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv564964



Internal ID16352373
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:68925547..68956447hg38UCSC Ensembl
Innerchr14:69392264..69423164hg19UCSC Ensembl
Innerchr14:68462017..68492917hg18UCSC Ensembl
Cytoband14q24.1
Allele length
AssemblyAllele length
hg3830901
hg1930901
hg1830901
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3736n54
Supporting Variantsnssv828627
Samples
Known GenesACTN1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv564964
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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