A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6612n152



Internal ID22822315
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 Variants
Supporting Variantsnsv3203569, nsv3526659
SamplesHG00512, NA19239, HG00731, NA19240, HG00733
Known GenesSRD5A3, SRD5A3-AS1
MethodMerging
Sequencing
AnalysisMultiple analysis algorthms
PhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformIllumina HiSeq
See merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv6612n152
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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