A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14466051



Internal ID22218316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:160653233..160653316hg38UCSC Ensembl
chr5:160080240..160080323hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg3884
hg1984
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3288402
Supporting Variants
SamplesHG00733
Known GenesATP10B
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)nssv14466051
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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