A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3538628



Internal ID22407811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:144827818..144827818hg38UCSC Ensembl
chr2:91738263..91738263hg19UCSC Ensembl
Cytoband2p11.1
Allele length
AssemblyAllele length
hg38464
hg19464
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14413681, nssv14441271
SamplesHG00733, HG00514
Known Genes
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)nsv3538628
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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