A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584501



Internal ID16025224
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:219260522..219323181hg38UCSC Ensembl
Innerchr2:220125244..220187903hg19UCSC Ensembl
Innerchr2:219833488..219896147hg18UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3862660
hg1962660
hg1862660
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv932415, nssv932414
Samples
Known GenesDNAJB2, MIR153-1, PTPRN, TUBA4B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584501
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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