A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv21134



Internal ID15834393
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:40134586..40195367hg38UCSC Ensembl
Outerchr9:40133821..40202967hg38UCSC Ensembl
Innerchr9:43161584..45412304hg19UCSC Ensembl
Outerchr9:43153944..45413070hg19UCSC Ensembl
Innerchr9:43151580..45302300hg18UCSC Ensembl
Outerchr9:43143940..45303066hg18UCSC Ensembl
Innerchr9:45429882..45490663hg17UCSC Ensembl
Outerchr9:45429117..45498263hg17UCSC Ensembl
Cytoband9p11.2
Allele length
AssemblyAllele length
hg3869147
hg192259127
hg182159127
hg1769147
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8483
Supporting Variants
SamplesNA18517
Known GenesCNTNAP3B, FAM27C, LOC643648, SPATA31A6
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)nssv21134
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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