A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3191802



Internal ID22342461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:83495804..83500290hg38UCSC Ensembl
chr4:84416957..84421443hg19UCSC Ensembl
Cytoband4q21.23
Allele length
AssemblyAllele length
hg384487
hg194487
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14315819, nssv14315818, nssv14315820
SamplesHG00512, HG00513, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3191802
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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