A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3279978



Internal ID22378285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:45373568..45373820hg38UCSC Ensembl
chr5:45373670..45373922hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg38253
hg19253
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14411826
SamplesNA19240
Known GenesHCN1
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)nsv3279978
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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