A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960401



Internal ID18248966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:7577078..7578770hg38UCSC Ensembl
Innerchr17:7480396..7482088hg19UCSC Ensembl
Innerchr17:7421120..7422812hg18UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg381693
hg191693
hg181693
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2073891, nssv2073893, nssv2073890, nssv2073896, nssv2073894, nssv2073898, nssv2073897, nssv2073895, nssv2073892, nssv2073889
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesEIF4A1, SENP3-EIF4A1, SNORA67
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960401
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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