A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588983



Internal ID16029706
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:36862461..36875760hg38UCSC Ensembl
Innerchr22:37258503..37271802hg19UCSC Ensembl
Innerchr22:35588449..35601748hg18UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3813300
hg1913300
hg1813300
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1151835
SamplesNINDS_51
Known GenesNCF4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588983
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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