A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv966293



Internal ID18254837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:82490455..82493609hg38UCSC Ensembl
Innerchr4:83411608..83414762hg19UCSC Ensembl
Innerchr4:83630632..83633786hg18UCSC Ensembl
Cytoband4q21.22
Allele length
AssemblyAllele length
hg383155
hg193155
hg183155
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2325107, nssv2325111, nssv2325112, nssv2325110, nssv2325109, nssv2325108, nssv2325113, nssv2325104, nssv2325105, nssv2325106
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesTMEM150C
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv966293
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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