A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14377265



Internal ID22327768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:211434216..211434216hg38UCSC Ensembl
chr1:211607558..211607558hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg382971
hg192971
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3532251
Supporting Variants
SamplesNA19240
Known Genes
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)nssv14377265
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