A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960504



Internal ID18595755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:54479204..54480283hg38UCSC Ensembl
Innerchr17:52556565..52557644hg19UCSC Ensembl
Innerchr17:49911564..49912643hg18UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg381080
hg191080
hg181080
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2103103, nssv2103098, nssv2103099, nssv2103105, nssv2103096, nssv2103102, nssv2103101, nssv2103100, nssv2103104, nssv2103097
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960504
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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