A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978432



Internal ID18613637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:47171669..47172699hg38UCSC Ensembl
Innerchr17:45249035..45250065hg19UCSC Ensembl
Innerchr17:42604034..42605064hg18UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg381031
hg191031
hg181031
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2099539, nssv2099545, nssv2099538, nssv2099542, nssv2099540, nssv2099547, nssv2099544, nssv2099541, nssv2099546, nssv2099543
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCDC27
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv978432
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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