A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14312894



Internal ID22140487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:54040760..54041074hg38UCSC Ensembl
chr4:54906927..54907241hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg38315
hg19315
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3199829
Supporting Variants
SamplesHG00513
Known GenesCHIC2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14312894
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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