A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9717



Internal ID15500943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:37230858..37305796hg38UCSC Ensembl
Outerchr19:37721760..37796698hg19UCSC Ensembl
Outerchr19:42413600..42488538hg18UCSC Ensembl
Outerchr19:42413600..42488538hg17UCSC Ensembl
Cytoband19q13.12
Allele length
AssemblyAllele length
hg3874939
hg1974939
hg1874939
hg1774939
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv24840, nssv27552, nssv24239, nssv21665, nssv24382, nssv26958, nssv27556, nssv28495, nssv23780, nssv27780, nssv22309, nssv25855, nssv27496, nssv25190, nssv26918
SamplesNA18975, NA19173, NA10839, NA10847, NA18972, NA18517, NA18860, NA18563, NA07048, NA18572, NA18502, NA18504, NA18942, NA19221, NA19240
Known GenesLOC284412, ZNF383
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)nsv9717
Frequency
Sample Size31
Observed Gain10
Observed Loss5
Observed Complex0
Frequencyn/a


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