A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv947966



Internal ID18248126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46860076..46999741hg38UCSC Ensembl
Innerchr10:48739621..48879286hg19UCSC Ensembl
Innerchr10:48359627..48499292hg18UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38139666
hg19139666
hg18139666
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1856166, nssv1856163, nssv1856158, nssv1856165, nssv1856160, nssv1856161, nssv1856164, nssv1856162, nssv1856159, nssv1856157
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesFRMPD2P1, PTPN20A, PTPN20B
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv947966
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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