A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14321784



Internal ID22266339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:115902990..115913359hg38UCSC Ensembl
chr5:115238687..115249056hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg3810370
hg1910370
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3208744
Supporting Variants
SamplesNA19238
Known GenesAP3S1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14321784
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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