A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv24574



Internal ID15487107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:210300769..210388737hg38UCSC Ensembl
Outerchr1:210230164..210391244hg38UCSC Ensembl
Innerchr1:210474114..210562081hg19UCSC Ensembl
Outerchr1:210403509..210564588hg19UCSC Ensembl
Innerchr1:208540737..208628704hg18UCSC Ensembl
Outerchr1:208470132..208631211hg18UCSC Ensembl
Innerchr1:206862509..206950476hg17UCSC Ensembl
Outerchr1:206791904..206952983hg17UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg38161081
hg19161080
hg18161080
hg17161080
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8769
Supporting Variants
SamplesNA18504
Known GenesHHAT, SERTAD4, SERTAD4-AS1
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)nssv24574
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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