A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv967770



Internal ID18256312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:86777901..86779838hg38UCSC Ensembl
Innerchr4:87699054..87700991hg19UCSC Ensembl
Innerchr4:87918078..87920015hg18UCSC Ensembl
Cytoband4q21.3
Allele length
AssemblyAllele length
hg381938
hg191938
hg181938
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2326455, nssv2326454, nssv2326462, nssv2326459, nssv2326463, nssv2326458, nssv2326461, nssv2326456, nssv2326460, nssv2326457
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesPTPN13
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv967770
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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