A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16560



Internal ID15497605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:29881914..29992782hg38UCSC Ensembl
Outerchr6:29875077..29993638hg38UCSC Ensembl
Innerchr6:29849691..29960559hg19UCSC Ensembl
Outerchr6:29842854..29961415hg19UCSC Ensembl
Innerchr6:29957670..30068538hg18UCSC Ensembl
Outerchr6:29950833..30069394hg18UCSC Ensembl
Innerchr6:29957670..30068538hg17UCSC Ensembl
Outerchr6:29950833..30069394hg17UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg38118562
hg19118562
hg18118562
hg17118562
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10810
Supporting Variants
SamplesNA19221
Known GenesHCG4B, HCG9, HLA-A, HLA-H
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)nssv16560
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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