A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9512



Internal ID15847424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:20799742..20805815hg38UCSC Ensembl
Outerchr17:20703055..20709128hg19UCSC Ensembl
Outerchr17:20643647..20649720hg18UCSC Ensembl
Outerchr17:20643647..20649720hg17UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg386074
hg196074
hg186074
hg176074
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv27233, nssv23091, nssv23470, nssv25079, nssv25792
SamplesNA18860, NA10863, NA18853, NA19240, NA19144
Known Genes
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)nsv9512
Frequency
Sample Size31
Observed Gain4
Observed Loss1
Observed Complex0
Frequencyn/a


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