A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13546



Internal ID15488771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70774868..70790461hg38UCSC Ensembl
Outerchr5:70774573..70790670hg38UCSC Ensembl
Innerchr5:70070695..70086288hg19UCSC Ensembl
Outerchr5:70070400..70086497hg19UCSC Ensembl
Innerchr5:70106451..70122044hg18UCSC Ensembl
Outerchr5:70106156..70122253hg18UCSC Ensembl
Innerchr5:70106451..70122044hg17UCSC Ensembl
Outerchr5:70106156..70122253hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3816098
hg1916098
hg1816098
hg1716098
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA18552
Known GenesGUSBP9, SMA4
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)nssv13546
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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