A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3541797



Internal ID22410887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:53525463..53525463hg38UCSC Ensembl
chr1:53991136..53991136hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38449
hg19449
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14413133, nssv14441250
SamplesHG00733, HG00514
Known GenesGLIS1
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)nsv3541797
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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