A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3534481



Internal ID22403764
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:62730862..62730862hg38UCSC Ensembl
chr2:62957997..62957997hg19UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg38767
hg19767
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14394086, nssv14421043
SamplesNA19240, HG00514
Known GenesEHBP1
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)nsv3534481
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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