A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3525008



Internal ID22394383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:53488431..53488507hg38UCSC Ensembl
chr5:52784261..52784337hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14321538, nssv14321537
SamplesHG00513, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3525008
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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