A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14369917



Internal ID22326070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:62349430..62349581hg38UCSC Ensembl
chr1:62815101..62815252hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38152
hg19152
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3526178
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14369917
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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