A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14319441



Internal ID22266164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:6771551..6774650hg38UCSC Ensembl
chr5:6771664..6774763hg19UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg383100
hg193100
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3208339
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14319441
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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