A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960501



Internal ID18595752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:49411628..49412128hg38UCSC Ensembl
Innerchr17:47488990..47489490hg19UCSC Ensembl
Innerchr17:44843989..44844489hg18UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg38501
hg19501
hg18501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2101305, nssv2101308, nssv2101309, nssv2101306, nssv2101307, nssv2101312, nssv2101313, nssv2101310, nssv2101314, nssv2101311
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPHB
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960501
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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