A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv571103



Internal ID16011826
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:1142213..1220162hg38UCSC Ensembl
Innerchr16:1192213..1270162hg19UCSC Ensembl
Innerchr16:1132214..1210163hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3877950
hg1977950
hg1877950
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4841n54
Supporting Variantsnssv851940
Samples
Known GenesCACNA1H
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv571103
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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