A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv582600



Internal ID16023323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:106268957..107828618hg38UCSC Ensembl
Innerchr2:106885413..108445074hg19UCSC Ensembl
Innerchr2:106251845..107811506hg18UCSC Ensembl
Cytoband2q12.2
Allele length
AssemblyAllele length
hg381559662
hg191559662
hg181559662
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6988n54
Supporting Variantsnssv915384
Samples
Known GenesPLGLA, RGPD3, RGPD4, RGPD4-AS1, ST6GAL2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv582600
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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