A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14341777



Internal ID22195679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:47871748..47871889hg38UCSC Ensembl
chr8:48784309..48784450hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg38142
hg19142
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3224423
Supporting Variants
SamplesHG00731
Known GenesPRKDC
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14341777
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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