A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv25158



Internal ID15480992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:210300769..210374038hg38UCSC Ensembl
Outerchr1:210230164..210388737hg38UCSC Ensembl
Innerchr1:210474114..210547382hg19UCSC Ensembl
Outerchr1:210403509..210562081hg19UCSC Ensembl
Innerchr1:208540737..208614005hg18UCSC Ensembl
Outerchr1:208470132..208628704hg18UCSC Ensembl
Innerchr1:206862509..206935777hg17UCSC Ensembl
Outerchr1:206791904..206950476hg17UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg38158574
hg19158573
hg18158573
hg17158573
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8769
Supporting Variants
SamplesNA07029
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)nssv25158
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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