A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3192503



Internal ID22343080
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:113979838..113979914hg38UCSC Ensembl
chr2:114737415..114737491hg19UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4748n152
Supporting Variantsnssv14408293
SamplesNA19240
Known GenesLOC100499194, LOC440900
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3192503
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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