A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1055517



Internal ID19144736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:22385940..22880099hg38UCSC Ensembl
Innerchr22:22740307..23222279hg19UCSC Ensembl
Innerchr22:21070307..21552279hg18UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38494160
hg19481973
hg18481973
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4505n100
Supporting Variantsnssv3733097
Samples
Known GenesGGTLC2, LOC648691, MIR650, POM121L1P, 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)nsv1055517
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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