A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3538348



Internal ID22407535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:202577538..202577538hg38UCSC Ensembl
chr2:203442261..203442261hg19UCSC Ensembl
Cytoband2q33.2
Allele length
AssemblyAllele length
hg38146
hg19146
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14447713, nssv14395377, nssv14421305
SamplesNA19240, HG00733, 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)nsv3538348
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer