A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv22344



Internal ID15493382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:31950314..34015407hg38UCSC Ensembl
Outerchr16:31943783..34015878hg38UCSC Ensembl
Innerchr16:31961635..33817874hg19UCSC Ensembl
Outerchr16:31955104..33818345hg19UCSC Ensembl
Innerchr16:31869136..33725375hg18UCSC Ensembl
Outerchr16:31862605..33725846hg18UCSC Ensembl
Innerchr16:31869136..33725375hg17UCSC Ensembl
Outerchr16:31862605..33725846hg17UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg382072096
hg191863242
hg181863242
hg171863242
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9439
Supporting Variants
SamplesNA18975
Known GenesHERC2P4, LOC390705, RNU6-76P, SLC6A10P, TP53TG3, TP53TG3B, TP53TG3C, TP53TG3D
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)nssv22344
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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