A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3592263



Internal ID18543858
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:46310352..46352592hg38UCSC Ensembl
Innerchr22:46706249..46748489hg19UCSC Ensembl
Innerchr22:45084913..45127153hg18UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg3842241
hg1942241
hg1842241
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1066139
Supporting Variants
Samples
Known GenesGTSE1, TRMU
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3592263
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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