A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978451



Internal ID18266970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:62514033..62520814hg38UCSC Ensembl
Innerchr17:60591394..60598175hg19UCSC Ensembl
Innerchr17:57945126..57951907hg18UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg386782
hg196782
hg186782
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2106572, nssv2106580, nssv2106579, nssv2106576, nssv2106578, nssv2106574, nssv2106577, nssv2106571, nssv2106575, nssv2106573
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesTLK2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv978451
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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