A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3201084



Internal ID22350439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:75330812..75331158hg38UCSC Ensembl
chr5:74626637..74626983hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg38347
hg19347
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14321169, nssv14321168
SamplesNA19238, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3201084
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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