A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv981219



Internal ID18616418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:57923797..57933639hg38UCSC Ensembl
Innerchr6:58250075..58259917hg19UCSC Ensembl
Innerchr6:58358034..58367876hg18UCSC Ensembl
Cytoband6p11.2
Allele length
AssemblyAllele length
hg389843
hg199843
hg189843
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2706427, nssv2706459, nssv2706422, nssv2706462, nssv2706420, nssv2706456, nssv2706429, nssv2706454, nssv2706426, nssv2706457, nssv2706453, nssv2706461, nssv2706455, nssv2706460, nssv2706421, nssv2706428, nssv2706423, nssv2706425, nssv2706458, nssv2706424
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesGUSBP4
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv981219
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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