A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4010512



Internal ID22072143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:41231308..41237517hg38UCSC Ensembl
Outerchr17:41224178..41239604hg38UCSC Ensembl
Innerchr17:39387560..39393769hg19UCSC Ensembl
Outerchr17:39380430..39395856hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3815427
hg1915427
Variant TypeCNV duplication
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1155417
Supporting Variants
Samples
Known GenesKRTAP9-2, KRTAP9-3, KRTAP9-8
MethodSNP array
AnalysisDefault settings
Platform
Comments
ReferenceLou_et_al_2014
Pubmed ID25026903
Accession Number(s)nssv4010512
Frequency
Sample Size131
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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