A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13436



Internal ID15841206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:34611201..34613598hg38UCSC Ensembl
Outerchr1:34608858..34615458hg38UCSC Ensembl
Innerchr1:35076802..35079199hg19UCSC Ensembl
Outerchr1:35074459..35081059hg19UCSC Ensembl
Innerchr1:34849389..34851786hg18UCSC Ensembl
Outerchr1:34847046..34853646hg18UCSC Ensembl
Innerchr1:34745895..34748292hg17UCSC Ensembl
Outerchr1:34743552..34750152hg17UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg386601
hg196601
hg186601
hg176601
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10084
Supporting Variants
SamplesNA19007
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)nssv13436
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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