A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14364064



Internal ID22117930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:46215210..46220722hg38UCSC Ensembl
chr1:46680882..46686394hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg385513
hg195513
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3190598
Supporting Variants
SamplesHG00512
Known GenesLURAP1, POMGNT1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14364064
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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