A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2751521



Internal ID17827918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:68285669..68298799hg38UCSC Ensembl
Innerchr9:70900585..70913715hg19UCSC Ensembl
Innerchr9:70090405..70103535hg18UCSC Ensembl
Cytoband9q13
Allele length
AssemblyAllele length
hg3813131
hg1913131
hg1813131
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv982540
Supporting Variants
SamplesHGDP00998
Known GenesCBWD3
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Commentslineage specific expansions - expansion_Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2751521
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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