A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3530778



Internal ID22400148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:8294667..8294667hg38UCSC Ensembl
chr4:8296394..8296394hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg381143
hg191143
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14450695
SamplesHG00733
Known GenesHTRA3
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)nsv3530778
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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