A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4012428



Internal ID22074059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:22546611..22693200hg38UCSC Ensembl
Outerchr16:22430699..22699421hg38UCSC Ensembl
Innerchr16:22557932..22704521hg19UCSC Ensembl
Outerchr16:22442020..22710742hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg38268723
hg19268723
Variant TypeCNV duplication
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1155287
Supporting Variants
Samples
Known GenesLOC653786, NPIPB5, RRN3P3, SMG1P1
MethodSNP array
AnalysisDefault settings
Platform
Comments
ReferenceLou_et_al_2014
Pubmed ID25026903
Accession Number(s)nssv4012428
Frequency
Sample Size131
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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