A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3202158



Internal ID22351359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:7561513..7561725hg38UCSC Ensembl
chr4:7563240..7563452hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38213
hg19213
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14310838, nssv14310835, nssv14310837, nssv14310834, nssv14310839, nssv14310836
SamplesNA19238, NA19239, HG00731, HG00732, NA19240, HG00513
Known GenesSORCS2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3202158
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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