A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14408285



Internal ID22294892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:112776416..112776553hg38UCSC Ensembl
chr2:113533993..113534130hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38138
hg19138
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3281329
Supporting Variants
SamplesNA19240
Known GenesIL1A
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)nssv14408285
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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