A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14322518



Internal ID22267573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:119063189..119063245hg38UCSC Ensembl
chr5:118398884..118398940hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3525914
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14322518
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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