A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3205681



Internal ID22354343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:54225451..54229050hg38UCSC Ensembl
chr4:55091618..55095217hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg383600
hg193600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14312900, nssv14312897, nssv14312901, nssv14312898, nssv14312903, nssv14312905, nssv14312899, nssv14312904, nssv14312902
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3205681
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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