A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3195739



Internal ID22345871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:53877472..53882388hg38UCSC Ensembl
chr4:54743639..54748555hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg384917
hg194917
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14312885, nssv14312881, nssv14312886, nssv14312883, nssv14312884, nssv14312882
SamplesHG00512, HG00731, HG00732, HG00733, HG00513, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3195739
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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