A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1061550



Internal ID19150769
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 StatusM
Merged Variantsdgv4587n100
Supporting Variantsnssv3592253, nssv3592252
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)nsv1061550
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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