A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3589339



Internal ID18540934
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:17605950..17706530hg38UCSC Ensembl
Innerchr22:18088716..18189296hg19UCSC Ensembl
Innerchr22:16468716..16569296hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38100581
hg19100581
hg18100581
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1055751
Supporting Variants
Samples
Known GenesATP6V1E1, BCL2L13
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3589339
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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