A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv611723



Internal ID16052446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:91110980..91171430hg38UCSC Ensembl
Innerchr8:92123208..92183658hg19UCSC Ensembl
Innerchr8:92192384..92252834hg18UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg3860451
hg1960451
hg1860451
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv12235n54
Supporting Variantsnssv1117719, nssv1117720, nssv1117718
Samples
Known GenesLRRC69
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv611723
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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