A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27954



Internal ID15493154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:42515458..42553556hg38UCSC Ensembl
Outerchr22:42514963..42553974hg38UCSC Ensembl
Innerchr22:42911464..42949562hg19UCSC Ensembl
Outerchr22:42910969..42949980hg19UCSC Ensembl
Innerchr22:41241408..41279506hg18UCSC Ensembl
Outerchr22:41240913..41279924hg18UCSC Ensembl
Innerchr22:41235962..41274060hg17UCSC Ensembl
Outerchr22:41235467..41274478hg17UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg3839012
hg1939012
hg1839012
hg1739012
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9912
Supporting Variants
SamplesNA18972
Known GenesRRP7A, SERHL2
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)nssv27954
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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