A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14448178



Internal ID22243673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:65519326..65519326hg38UCSC Ensembl
chr2:65746460..65746460hg19UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg382553
hg192553
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3531350
Supporting Variants
SamplesHG00733
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)nssv14448178
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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