A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28093



Internal ID15833500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:56098910..56101173hg38UCSC Ensembl
Outerchr2:56091773..56101780hg38UCSC Ensembl
Innerchr2:56326045..56328308hg19UCSC Ensembl
Outerchr2:56318908..56328915hg19UCSC Ensembl
Innerchr2:56179549..56181812hg18UCSC Ensembl
Outerchr2:56172412..56182419hg18UCSC Ensembl
Innerchr2:56237696..56239959hg17UCSC Ensembl
Outerchr2:56230559..56240566hg17UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg3810008
hg1910008
hg1810008
hg1710008
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9824
Supporting Variants
SamplesNA18504
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)nssv28093
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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