A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584728



Internal ID16025451
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:237362083..237525791hg38UCSC Ensembl
Innerchr2:238270726..238434434hg19UCSC Ensembl
Innerchr2:237935465..238099173hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38163709
hg19163709
hg18163709
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv933656
Samples
Known GenesCOL6A3, MIR6811, MLPH
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584728
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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