A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056678



Internal ID19145897
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:22439745..22588299hg38UCSC Ensembl
Innerchr22:22794082..22930770hg19UCSC Ensembl
Innerchr22:21124082..21260770hg18UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38148555
hg19136689
hg18136689
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4510n100
Supporting Variantsnssv3733119
Samples
Known GenesLOC648691, PRAME, ZNF280A, ZNF280B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1056678
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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