A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16613



Internal ID15492671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:32394294..32400572hg38UCSC Ensembl
Outerchr6:32391995..32402035hg38UCSC Ensembl
Innerchr6:32362071..32368349hg19UCSC Ensembl
Outerchr6:32359772..32369812hg19UCSC Ensembl
Innerchr6:32470049..32476327hg18UCSC Ensembl
Outerchr6:32467750..32477790hg18UCSC Ensembl
Innerchr6:32470049..32476327hg17UCSC Ensembl
Outerchr6:32467750..32477790hg17UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg3810041
hg1910041
hg1810041
hg1710041
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7882
Supporting Variants
SamplesNA18972
Known GenesBTNL2, HCG23
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)nssv16613
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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