A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960455



Internal ID18249020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:28275192..28279415hg38UCSC Ensembl
Innerchr17:26602218..26606441hg19UCSC Ensembl
Innerchr17:23626345..23630568hg18UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg384224
hg194224
hg184224
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2088469, nssv2088464, nssv2088466, nssv2088462, nssv2088468, nssv2088465, nssv2088463, nssv2088461, nssv2088467, nssv2088470
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesKRT18P55
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960455
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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