A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv571104



Internal ID16011827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:1148938..1220162hg38UCSC Ensembl
Innerchr16:1198938..1270162hg19UCSC Ensembl
Innerchr16:1138939..1210163hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3871225
hg1971225
hg1871225
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4841n54
Supporting Variantsnssv851941, nssv1149290
SamplesHGDP00656
Known GenesCACNA1H
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv571104
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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