A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9617



Internal ID15847529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:14736668..14748500hg38UCSC Ensembl
Outerchr18:14736667..14748499hg19UCSC Ensembl
Outerchr18:14726667..14738499hg18UCSC Ensembl
Outerchr18:14726667..14738499hg17UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg3811833
hg1911833
hg1811833
hg1711833
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv24625, nssv26218, nssv23782, nssv24943, nssv24821, nssv24964, nssv23510
SamplesNA18980, NA07029, NA12155, NA10839, NA18975, NA18537, NA12740
Known GenesANKRD30B
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)nsv9617
Frequency
Sample Size31
Observed Gain2
Observed Loss5
Observed Complex0
Frequencyn/a


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