A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3197969



Internal ID22347773
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:159745327..159779343hg38UCSC Ensembl
chr4:160666479..160700495hg19UCSC Ensembl
Cytoband4q32.1
Allele length
AssemblyAllele length
hg3834017
hg1934017
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6914n152
Supporting Variantsnssv14435539
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3197969
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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