A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3280991



Internal ID22379309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:37036685..37036846hg38UCSC Ensembl
chr4:37038307..37038468hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg38162
hg19162
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6555n152
Supporting Variantsnssv14435419
SamplesHG00514
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)nsv3280991
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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