A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv572996



Internal ID16013719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:75901127..76701352hg38UCSC Ensembl
Innerchr16:75935025..76735249hg19UCSC Ensembl
Innerchr16:74492526..75292750hg18UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg38800226
hg19800225
hg18800225
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5192n54
Supporting Variantsnssv859201
Samples
Known GenesCNTNAP4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv572996
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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