A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv565124



Internal ID16005847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:73532494..73548935hg38UCSC Ensembl
Innerchr14:73999198..74015639hg19UCSC Ensembl
Innerchr14:73068951..73085392hg18UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3816442
hg1916442
hg1816442
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv829323, nssv829324, nssv829325
Samples
Known GenesACOT1, HEATR4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv565124
Frequency
Sample Size17421
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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