A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14394246



Internal ID22285219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:234514745..234514745hg38UCSC Ensembl
chr2:235423389..235423389hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38955
hg19955
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3539603
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)nssv14394246
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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