A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3203569



Internal ID22352552
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6612n152
Supporting Variantsnssv14409232
SamplesNA19240
Known GenesSRD5A3, SRD5A3-AS1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3203569
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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