A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14318186



Internal ID22130193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:147537804..147537856hg38UCSC Ensembl
chr4:148458956..148459008hg19UCSC Ensembl
Cytoband4q31.22
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3524944
Supporting Variants
SamplesHG00513
Known GenesEDNRA
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14318186
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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