A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3245004



Internal ID22376021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:43998007..43998060hg38UCSC Ensembl
chr19:44502159..44502212hg19UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14462156
SamplesHG00733
Known GenesZNF155
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsDeletion variant involving LTR satellite DNA
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3245004
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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