A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3526358



Internal ID22395739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:73775881..73775932hg38UCSC Ensembl
chr5:73071706..73071757hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14321141, nssv14321143, nssv14321138, nssv14321139, nssv14321142, nssv14321140, nssv14321144
SamplesNA19238, NA19239, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesARHGEF28
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3526358
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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