A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9740



Internal ID15847652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:51592978..51603768hg38UCSC Ensembl
Outerchr19:52096231..52107021hg19UCSC Ensembl
Outerchr19:56788043..56798833hg18UCSC Ensembl
Outerchr19:56788043..56798833hg17UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3810791
hg1910791
hg1810791
hg1710791
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv27794, nssv24399, nssv25257, nssv23915, nssv27600, nssv24945, nssv25290
SamplesNA18563, NA18860, NA18942, NA10839, NA18975, NA19007, NA18972
Known GenesFLJ30403
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)nsv9740
Frequency
Sample Size31
Observed Gain6
Observed Loss1
Observed Complex0
Frequencyn/a


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