A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8769



Internal ID15499995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:210230164..210391244hg38UCSC Ensembl
Outerchr1:210403509..210564588hg19UCSC Ensembl
Outerchr1:208470132..208631211hg18UCSC 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 StatusM
Merged Variants
Supporting Variantsnssv25158, nssv24574, nssv27021
SamplesNA07029, NA18504, NA18517
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)nsv8769
Frequency
Sample Size31
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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