A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15743



Internal ID15492642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70866370..71072986hg38UCSC Ensembl
Outerchr5:70865455..71074101hg38UCSC Ensembl
Innerchr5:70162197..70368813hg19UCSC Ensembl
Outerchr5:70161282..70369928hg19UCSC Ensembl
Innerchr5:70197953..70404569hg18UCSC Ensembl
Outerchr5:70197038..70405684hg18UCSC Ensembl
Innerchr5:70197953..70404569hg17UCSC Ensembl
Outerchr5:70197038..70405684hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38208647
hg19208647
hg18208647
hg17208647
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA18972
Known GenesGTF2H2, GTF2H2B, GTF2H2C, GTF2H2D, 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)nssv15743
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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