A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584818



Internal ID16025541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:240653361..240686640hg38UCSC Ensembl
Innerchr2:241592778..241626057hg19UCSC Ensembl
Innerchr2:241241451..241274730hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3833280
hg1933280
hg1833280
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv933832
Samples
Known GenesAQP12B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584818
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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