A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv572704



Internal ID16013427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:57092192..57094476hg38UCSC Ensembl
Innerchr16:57126104..57128388hg19UCSC Ensembl
Innerchr16:55683605..55685889hg18UCSC Ensembl
Cytoband16q13
Allele length
AssemblyAllele length
hg382285
hg192285
hg182285
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv857755, nssv857754
Samples
Known GenesCPNE2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv572704
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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