A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14407601



Internal ID22312856
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:205988745..205988872hg38UCSC Ensembl
chr2:206853469..206853596hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg38128
hg19128
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3279760
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)nssv14407601
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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