A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1060216



Internal ID19149435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:37374317..37412845hg38UCSC Ensembl
Innerchr22:37770357..37808884hg19UCSC Ensembl
Innerchr22:36100303..36138830hg18UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg3838529
hg1938528
hg1838528
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4565n100
Supporting Variantsnssv3600872
Samples
Known GenesELFN2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1060216
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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