A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3205499



Internal ID22354182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:69476339..69479964hg38UCSC Ensembl
chr5:68772166..68775791hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg383626
hg193626
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14323231, nssv14323232, nssv14323233
SamplesHG00512, HG00513, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3205499
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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