A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv851943



Internal ID15799213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:1191323..1191837hg38UCSC Ensembl
Innerchr16:1241323..1241837hg19UCSC Ensembl
Innerchr16:1181324..1181838hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38515
hg19515
hg18515
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv571106
Supporting Variants
Samples
Known GenesCACNA1H
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv851943
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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