A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14386888



Internal ID22300054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:212468463..212468463hg38UCSC Ensembl
chr1:212641805..212641805hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg38591
hg19591
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3542934
Supporting Variants
SamplesNA19240
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)nssv14386888
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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