A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3525974



Internal ID22395353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:54550116..54550216hg38UCSC Ensembl
chr4:55416283..55416383hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg38101
hg19101
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14312909, nssv14312910, nssv14312912, nssv14312911
SamplesHG00512, HG00732, HG00733, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3525974
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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