A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv596806



Internal ID16384215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:1058603..1061536hg38UCSC Ensembl
Innerchr5:1058718..1061651hg19UCSC Ensembl
Innerchr5:1111718..1114651hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg382934
hg192934
hg182934
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1021495
Samples
Known GenesSLC12A7
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv596806
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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