A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14453947



Internal ID22248614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:132208421..132208421hg38UCSC Ensembl
chr5:131544114..131544114hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3535437
Supporting Variants
SamplesHG00733
Known GenesP4HA2
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)nssv14453947
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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