A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978473



Internal ID18613678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:16741042..16745730hg38UCSC Ensembl
Innerchr17:16644356..16649044hg19UCSC Ensembl
Innerchr17:16585081..16589769hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg384689
hg194689
hg184689
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2651454, nssv2651459, nssv2651463, nssv2651456, nssv2651457, nssv2651461, nssv2651462, nssv2651460, nssv2651455, nssv2651458
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCCDC144A
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv978473
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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