A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12164



Internal ID15834140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:107985864..107988986hg38UCSC Ensembl
Outerchr3:107984248..107989555hg38UCSC Ensembl
Innerchr3:107704711..107707833hg19UCSC Ensembl
Outerchr3:107703095..107708402hg19UCSC Ensembl
Innerchr3:109187401..109190523hg18UCSC Ensembl
Outerchr3:109185785..109191092hg18UCSC Ensembl
Innerchr3:109187401..109190523hg17UCSC Ensembl
Outerchr3:109185785..109191092hg17UCSC Ensembl
Cytoband3q13.12
Allele length
AssemblyAllele length
hg385308
hg195308
hg185308
hg175308
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10305
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)nssv12164
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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