A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960120



Internal ID18248687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:48873588..48878124hg38UCSC Ensembl
Innerchr17:46950950..46955486hg19UCSC Ensembl
Innerchr17:44305949..44310485hg18UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg384537
hg194537
hg184537
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2100973, nssv2100976, nssv2100981, nssv2100979, nssv2100978, nssv2100975, nssv2100972, nssv2100974, nssv2100980, nssv2100977
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)nsv960120
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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