A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3526474



Internal ID22395854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:173399527..173399665hg38UCSC Ensembl
chr4:174320678..174320816hg19UCSC Ensembl
Cytoband4q34.1
Allele length
AssemblyAllele length
hg38139
hg19139
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14317297, nssv14317299, nssv14317298, nssv14317295, nssv14317296
SamplesHG00512, HG00731, HG00732, HG00513, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3526474
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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