A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588398



Internal ID16029121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:22326954..22834810hg38UCSC Ensembl
Innerchr22:22681312..23176986hg19UCSC Ensembl
Innerchr22:21011312..21506986hg18UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38507857
hg19495675
hg18495675
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8005n54
Supporting Variantsnssv1151512
SamplesNINDS_90
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)nsv588398
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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