A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14312933



Internal ID22280821
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:55368228..55368552hg38UCSC Ensembl
chr4:56234395..56234719hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg38325
hg19325
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3526659
Supporting Variants
SamplesNA19239
Known GenesSRD5A3, SRD5A3-AS1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14312933
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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