A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3193529



Internal ID22343964
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:237890252..237891201hg38UCSC Ensembl
chr2:238798894..238799843hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38950
hg19950
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5072n152
Supporting Variantsnssv14406628
SamplesNA19240
Known GenesRAMP1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3193529
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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