A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14463500



Internal ID22228928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:55720145..55720200hg38UCSC Ensembl
chr3:55754173..55754228hg19UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3280316
Supporting Variants
SamplesHG00733
Known GenesERC2
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)nssv14463500
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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