A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv19290



Internal ID15496866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76516688..76525511hg38UCSC Ensembl
Outerchr7:76516280..76526886hg38UCSC Ensembl
Innerchr7:76146005..76154828hg19UCSC Ensembl
Outerchr7:76145597..76156203hg19UCSC Ensembl
Innerchr7:75983941..75992764hg18UCSC Ensembl
Outerchr7:75983533..75994139hg18UCSC Ensembl
Innerchr7:75790656..75799479hg17UCSC Ensembl
Outerchr7:75790248..75800854hg17UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3810607
hg1910607
hg1810607
hg1710607
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8160
Supporting Variants
SamplesNA19221
Known GenesUPK3B
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)nssv19290
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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