A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28977



Internal ID15497372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:56011639..56015630hg38UCSC Ensembl
Outerchr2:56010366..56016466hg38UCSC Ensembl
Innerchr2:56238774..56242765hg19UCSC Ensembl
Outerchr2:56237501..56243601hg19UCSC Ensembl
Innerchr2:56092278..56096269hg18UCSC Ensembl
Outerchr2:56091005..56097105hg18UCSC Ensembl
Innerchr2:56150425..56154416hg17UCSC Ensembl
Outerchr2:56149152..56155252hg17UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg386101
hg196101
hg186101
hg176101
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9813
Supporting Variants
SamplesNA19221
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)nssv28977
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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