A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960127



Internal ID18248694
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:59594785..59602571hg38UCSC Ensembl
Innerchr17:57672146..57679932hg19UCSC Ensembl
Innerchr17:55026928..55034714hg18UCSC Ensembl
Cytoband17q23.1
Allele length
AssemblyAllele length
hg387787
hg197787
hg187787
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2103929, nssv2103935, nssv2103936, nssv2103931, nssv2103930, nssv2103932, nssv2103928, nssv2103933, nssv2103934, nssv2103937
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesDHX40
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960127
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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