A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv971631



Internal ID18260162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:22492701..22498051hg38UCSC Ensembl
Innerchr8:22350214..22355564hg19UCSC Ensembl
Innerchr8:22406159..22411509hg18UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg385351
hg195351
hg185351
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2494207, nssv2494212, nssv2494213, nssv2494215, nssv2494214, nssv2494211, nssv2494208, nssv2494206, nssv2494210, nssv2494209
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPPP3CC
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv971631
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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