A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9578



Internal ID15847490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:60002302..60034248hg38UCSC Ensembl
Outerchr17:58079663..58111609hg19UCSC Ensembl
Outerchr17:55434445..55466391hg18UCSC Ensembl
Outerchr17:55434445..55466391hg17UCSC Ensembl
Cytoband17q23.1
Allele length
AssemblyAllele length
hg3831947
hg1931947
hg1831947
hg1731947
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv27190, nssv26417, nssv27489, nssv25580, nssv24051, nssv23711, nssv26985, nssv27481, nssv24720, nssv26372, nssv28329, nssv27182, nssv26055, nssv27124, nssv27192, nssv24024, nssv27134, nssv23454
SamplesNA18502, NA18980, NA07029, NA12155, NA18860, NA10863, NA19221, NA18853, NA19132, NA18517, NA19240, NA19144, NA18972
Known GenesTBC1D3P1-DHX40P1
MethodOligo aCGH
AnalysisStatistical threshold = 5.0, minimum +/- log2 ratio = 0.25 and minimum number of probes = 2
PlatformAgilent-015686 Custom Human 244K CGH Microarray
Comments
ReferencePerry_et_al_2008
Pubmed ID18304495
Accession Number(s)nsv9578
Frequency
Sample Size31
Observed Gain8
Observed Loss5
Observed Complex0
Frequencyn/a


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