A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588895



Internal ID16029618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:32178287..32470947hg38UCSC Ensembl
Innerchr22:32574274..32866934hg19UCSC Ensembl
Innerchr22:30904274..31196934hg18UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg38292661
hg19292661
hg18292661
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1151738
SamplesNINDS_33
Known GenesBPIFC, LOC339666, RFPL2, RFPL3, RFPL3S, RTCB, SLC5A4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588895
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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