A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2536209



Internal ID17540511
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:40223888..40362627hg38UCSC Ensembl
Innerchr9:42368906..42507645hg19UCSC Ensembl
Innerchr9:42358902..42497641hg18UCSC Ensembl
Cytoband9p11.2
Allele length
AssemblyAllele length
hg38138740
hg19138740
hg18138740
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv972702
Supporting Variants
SamplesHGDP01307
Known GenesANKRD20A2, ANKRD20A3, FAM95B1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2536209
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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