A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv590301



Internal ID16377710
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:52114217..52256534hg38UCSC Ensembl
Innerchr3:52148233..52290550hg19UCSC Ensembl
Innerchr3:52123273..52265590hg18UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg38142318
hg19142318
hg18142318
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1151776
SamplesHGDP00684
Known GenesALAS1, POC1A, PPM1M, TLR9, TWF2, WDR82
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv590301
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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