A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16813



Internal ID15487046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:167129951..167130480hg38UCSC Ensembl
Outerchr6:167129452..167131143hg38UCSC Ensembl
Innerchr6:167543439..167543968hg19UCSC Ensembl
Outerchr6:167542940..167544631hg19UCSC Ensembl
Innerchr6:167463429..167463958hg18UCSC Ensembl
Outerchr6:167462930..167464621hg18UCSC Ensembl
Innerchr6:167513850..167514379hg17UCSC Ensembl
Outerchr6:167513351..167515042hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg381692
hg191692
hg181692
hg171692
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7998
Supporting Variants
SamplesNA18504
Known GenesCCR6
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)nssv16813
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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