A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28572



Internal ID15828178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:129947478..129977755hg38UCSC Ensembl
Outerchr2:129946827..129978850hg38UCSC Ensembl
Innerchr2:130705051..130735328hg19UCSC Ensembl
Outerchr2:130704400..130736423hg19UCSC Ensembl
Innerchr2:130421521..130451798hg18UCSC Ensembl
Outerchr2:130420870..130452893hg18UCSC Ensembl
Innerchr2:130421281..130451558hg17UCSC Ensembl
Outerchr2:130420630..130452653hg17UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg3832024
hg1932024
hg1832024
hg1732024
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10157
Supporting Variants
SamplesNA07048
Known GenesRAB6C-AS1
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)nssv28572
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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