A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28086



Internal ID15829478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:129931369..130009339hg38UCSC Ensembl
Outerchr2:129931274..130009715hg38UCSC Ensembl
Innerchr2:130688942..130766912hg19UCSC Ensembl
Outerchr2:130688847..130767288hg19UCSC Ensembl
Innerchr2:130405412..130483382hg18UCSC Ensembl
Outerchr2:130405317..130483758hg18UCSC Ensembl
Innerchr2:130405172..130483142hg17UCSC Ensembl
Outerchr2:130405077..130483518hg17UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg3878442
hg1978442
hg1878442
hg1778442
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10157
Supporting Variants
SamplesNA10863
Known GenesLOC389033, RAB6C, RAB6C-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)nssv28086
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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