A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16484



Internal ID15834402
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:32464137..32467327hg38UCSC Ensembl
Outerchr6:32463329..32470802hg38UCSC Ensembl
Innerchr6:32431914..32435104hg19UCSC Ensembl
Outerchr6:32431106..32438579hg19UCSC Ensembl
Innerchr6:32539892..32543082hg18UCSC Ensembl
Outerchr6:32539084..32546557hg18UCSC Ensembl
Innerchr6:32539892..32543082hg17UCSC Ensembl
Outerchr6:32539084..32546557hg17UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg387474
hg197474
hg187474
hg177474
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7883
Supporting Variants
SamplesNA18517
Known Genes
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)nssv16484
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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