A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14407345



Internal ID22297889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:3173257..3173985hg38UCSC Ensembl
chr19:3173255..3173983hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38729
hg19729
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3292175
Supporting Variants
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14407345
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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