A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14323231



Internal ID22124493
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3205499
Supporting Variants
SamplesHG00512
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14323231
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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