A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv968762



Internal ID18603990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:5097437..5099302hg38UCSC Ensembl
Innerchr9:5097437..5099302hg19UCSC Ensembl
Innerchr9:5087437..5089302hg18UCSC Ensembl
Cytoband9p24.1
Allele length
AssemblyAllele length
hg381866
hg191866
hg181866
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2725709, nssv2725693, nssv2725696, nssv2725708, nssv2725710, nssv2725702, nssv2725703, nssv2725694, nssv2725706, nssv2725690, nssv2725691, nssv2725705, nssv2725699, nssv2725704, nssv2725697, nssv2725698, nssv2725707, nssv2725695, nssv2725701, nssv2725692
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesJAK2
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv968762
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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