A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3553056



Internal ID22421945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:61877438..61877438hg38UCSC Ensembl
chr15:62169637..62169637hg19UCSC Ensembl
Cytoband15q22.2
Allele length
AssemblyAllele length
hg3885
hg1985
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14418255
SamplesHG00514
Known GenesVPS13C
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences detected as low complexity by RepeatMasker/3.3.0
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3553056
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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