A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28848



Internal ID15838108
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:130024797..130025373hg38UCSC Ensembl
Outerchr2:130024131..130025721hg38UCSC Ensembl
Innerchr2:130782370..130782946hg19UCSC Ensembl
Outerchr2:130781704..130783294hg19UCSC Ensembl
Innerchr2:130498840..130499416hg18UCSC Ensembl
Outerchr2:130498174..130499764hg18UCSC Ensembl
Innerchr2:130498600..130499176hg17UCSC Ensembl
Outerchr2:130497934..130499524hg17UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg381591
hg191591
hg181591
hg171591
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10158
Supporting Variants
SamplesNA18860
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)nssv28848
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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