A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27269



Internal ID15827461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:61537193..61537682hg38UCSC Ensembl
Outerchr2:61536414..61538301hg38UCSC Ensembl
Innerchr2:61764328..61764817hg19UCSC Ensembl
Outerchr2:61763549..61765436hg19UCSC Ensembl
Innerchr2:61617832..61618321hg18UCSC Ensembl
Outerchr2:61617053..61618940hg18UCSC Ensembl
Innerchr2:61675979..61676468hg17UCSC Ensembl
Outerchr2:61675200..61677087hg17UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg381888
hg191888
hg181888
hg171888
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9946
Supporting Variants
SamplesNA07029
Known GenesXPO1
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)nssv27269
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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