A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612143



Internal ID16399552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:123915471..123976027hg38UCSC Ensembl
Innerchr8:124927711..124988267hg19UCSC Ensembl
Innerchr8:124996892..125057448hg18UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg3860557
hg1960557
hg1860557
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1120523
Samples
Known GenesFER1L6
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612143
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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