A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14318280



Internal ID22292704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:150389676..150389932hg38UCSC Ensembl
chr4:151310828..151311084hg19UCSC Ensembl
Cytoband4q31.3
Allele length
AssemblyAllele length
hg38257
hg19257
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3202258
Supporting Variants
SamplesNA19240
Known GenesLRBA
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14318280
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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