A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3592252



Internal ID18890533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:45574716..45600230hg38UCSC Ensembl
Innerchr22:45970596..45996110hg19UCSC Ensembl
Innerchr22:44349260..44374774hg18UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg3825515
hg1925515
hg1825515
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1061550
Supporting Variants
Samples
Known GenesFBLN1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3592252
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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