A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960436



Internal ID18595687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:19840282..19841350hg38UCSC Ensembl
Innerchr17:19743595..19744663hg19UCSC Ensembl
Innerchr17:19684187..19685255hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg381069
hg191069
hg181069
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2083549, nssv2083550, nssv2083558, nssv2083553, nssv2083552, nssv2083556, nssv2083551, nssv2083554, nssv2083555, nssv2083557
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesULK2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960436
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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