A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14292836



Internal ID22321366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:113979838..113979914hg38UCSC Ensembl
chr2:114737415..114737491hg19UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3199244
Supporting Variants
SamplesNA19240
Known GenesLOC100499194, LOC440900
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14292836
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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