A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960470



Internal ID18249035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:36080633..36110086hg38UCSC Ensembl
Innerchr17:34407991..34437479hg19UCSC Ensembl
Innerchr17:31432104..31461592hg18UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3829454
hg1929489
hg1829489
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2092494, nssv2092487, nssv2092491, nssv2092490, nssv2092496, nssv2092495, nssv2092489, nssv2092493, nssv2092488, nssv2092492
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesCCL3, CCL4
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960470
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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