A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3201172



Internal ID22350514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:113996129..113996181hg38UCSC Ensembl
chr6:114317293..114317345hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14331640, nssv14331641, nssv14331639
SamplesHG00731, HG00732, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3201172
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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