A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv962348



Internal ID18597592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:59968085..59976338hg38UCSC Ensembl
Innerchr17:58045446..58053699hg19UCSC Ensembl
Innerchr17:55400228..55408481hg18UCSC Ensembl
Cytoband17q23.1
Allele length
AssemblyAllele length
hg388254
hg198254
hg188254
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2104978, nssv2104982, nssv2104980, nssv2104984, nssv2104986, nssv2104977, nssv2104979, nssv2104981, nssv2104983, nssv2104985
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesTBC1D3P1-DHX40P1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv962348
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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