A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14323462



Internal ID22172752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:180285961..180286303hg38UCSC Ensembl
chr5:179712961..179713303hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38343
hg19343
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3202868
Supporting Variants
SamplesHG00514
Known GenesMAPK9
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14323462
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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