A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv11637



Internal ID15841791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:186572819..186577685hg38UCSC Ensembl
Outerchr2:186571992..186578630hg38UCSC Ensembl
Innerchr2:187437546..187442412hg19UCSC Ensembl
Outerchr2:187436719..187443357hg19UCSC Ensembl
Innerchr2:187145791..187150657hg18UCSC Ensembl
Outerchr2:187144964..187151602hg18UCSC Ensembl
Innerchr2:187263052..187267918hg17UCSC Ensembl
Outerchr2:187262225..187268863hg17UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg386639
hg196639
hg186639
hg176639
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10208
Supporting Variants
SamplesNA19132
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)nssv11637
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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