A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2743795



Internal ID17795552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:64400855..64403713hg38UCSC Ensembl
Innerchr9:69413273..69416131hg19UCSC Ensembl
Innerchr9:68703093..68705951hg18UCSC Ensembl
Cytoband9q12
Allele length
AssemblyAllele length
hg382859
hg192859
hg182859
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv973346
Supporting Variants
SamplesHGDP00778
Known GenesANKRD20A4
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Commentslineage specific expansions - expansion_Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2743795
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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