A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584500



Internal ID16025223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:219210071..219224963hg38UCSC Ensembl
Innerchr2:220074793..220089685hg19UCSC Ensembl
Innerchr2:219783037..219797929hg18UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3814893
hg1914893
hg1814893
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv932413
Samples
Known GenesABCB6, ATG9A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584500
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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