A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2728399



Internal ID17731957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:40250245..40251528hg38UCSC Ensembl
Innerchr9:42395263..42396546hg19UCSC Ensembl
Innerchr9:42385259..42386542hg18UCSC Ensembl
Cytoband9p12
Allele length
AssemblyAllele length
hg381284
hg191284
hg181284
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv973592
Supporting Variants
SamplesHGDP00456
Known GenesANKRD20A2, ANKRD20A3
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Commentslineage specific expansions - expansion_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2728399
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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