A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv962343



Internal ID18597587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:54961558..54962770hg38UCSC Ensembl
Innerchr17:53038919..53040131hg19UCSC Ensembl
Innerchr17:50393918..50395130hg18UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg381213
hg191213
hg181213
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2103201, nssv2103199, nssv2103198, nssv2103194, nssv2103195, nssv2103202, nssv2103193, nssv2103200, nssv2103197, nssv2103196
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCOX11, TOM1L1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv962343
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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