A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960048



Internal ID18248615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:7311126..7312422hg38UCSC Ensembl
Innerchr17:7214445..7215741hg19UCSC Ensembl
Innerchr17:7155169..7156465hg18UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg381297
hg191297
hg181297
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2072823, nssv2072824, nssv2072828, nssv2072830, nssv2072825, nssv2072829, nssv2072826, nssv2072827, nssv2072831, nssv2072832
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesEIF5A
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960048
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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