A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588465



Internal ID16029188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:22442902..22881878hg38UCSC Ensembl
Innerchr22:22797239..23224058hg19UCSC Ensembl
Innerchr22:21127239..21554058hg18UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38438977
hg19426820
hg18426820
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8005n54
Supporting Variantsnssv1152119
Samples1780862460_A
Known GenesGGTLC2, LOC648691, MIR650, POM121L1P, PRAME, ZNF280A, ZNF280B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588465
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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