A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3527594



Internal ID22396981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:111903112..111908632hg38UCSC Ensembl
chr6:112224315..112229835hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg385521
hg195521
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14331572, nssv14331575, nssv14331570, nssv14331574, nssv14331573, nssv14331569, nssv14331571
SamplesHG00512, NA19238, NA19239, HG00731, NA19240, HG00733, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3527594
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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