A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3210302



Internal ID22358241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:181318224..181331368hg38UCSC Ensembl
chr5:180745225..180758369hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3813145
hg1913145
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14412102
SamplesNA19240
Known GenesLOC100132062, LOC100132287, LOC100133331
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3210302
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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