A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv25161



Internal ID15482285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:46441494..46513032hg38UCSC Ensembl
Outerchr2:46440967..46518601hg38UCSC Ensembl
Innerchr2:46668633..46740171hg19UCSC Ensembl
Outerchr2:46668106..46745740hg19UCSC Ensembl
Innerchr2:46522137..46593675hg18UCSC Ensembl
Outerchr2:46521610..46599244hg18UCSC Ensembl
Innerchr2:46580284..46651822hg17UCSC Ensembl
Outerchr2:46579757..46657391hg17UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3877635
hg1977635
hg1877635
hg1777635
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9702
Supporting Variants
SamplesNA10847
Known GenesATP6V1E2, LOC101805491, TMEM247
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)nssv25161
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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