A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15750



Internal ID15497303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70891364..70976006hg38UCSC Ensembl
Outerchr5:70890740..70976007hg38UCSC Ensembl
Innerchr5:70187191..70271833hg19UCSC Ensembl
Outerchr5:70186567..70271834hg19UCSC Ensembl
Innerchr5:70222947..70307589hg18UCSC Ensembl
Outerchr5:70222323..70307590hg18UCSC Ensembl
Innerchr5:70222947..70307589hg17UCSC Ensembl
Outerchr5:70222323..70307590hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3885268
hg1985268
hg1885268
hg1785268
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA19221
Known GenesNAIP, 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)nssv15750
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer