A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16976



Internal ID15841043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:39443689..39445085hg38UCSC Ensembl
Outerchr9:39443500..39445500hg38UCSC Ensembl
Innerchr9:39443688..39445084hg19UCSC Ensembl
Outerchr9:39443499..39445678hg19UCSC Ensembl
Innerchr9:39433688..39435084hg18UCSC Ensembl
Outerchr9:39433499..39435678hg18UCSC Ensembl
Innerchr9:39433686..39435082hg17UCSC Ensembl
Outerchr9:39433497..39435676hg17UCSC Ensembl
Cytoband9p13.1
Allele length
AssemblyAllele length
hg382001
hg192180
hg182180
hg172180
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8451
Supporting Variants
SamplesNA19007
Known GenesLOC653501, ZNF658B
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)nssv16976
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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