A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14341



Internal ID15497912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70864097..71115092hg38UCSC Ensembl
Outerchr5:70863137..71117418hg38UCSC Ensembl
Innerchr5:70159924..70410919hg19UCSC Ensembl
Outerchr5:70158964..70413245hg19UCSC Ensembl
Innerchr5:70195680..70446675hg18UCSC Ensembl
Outerchr5:70194720..70449001hg18UCSC Ensembl
Innerchr5:70195680..70446675hg17UCSC Ensembl
Outerchr5:70194720..70449001hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38254282
hg19254282
hg18254282
hg17254282
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA19240
Known GenesGTF2H2, GTF2H2B, GTF2H2C, GTF2H2D, LOC647859, NAIP, SERF1A, SERF1B, SMN1, SMN2
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)nssv14341
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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