A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3202987



Internal ID22352073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:219159513..219159588hg38UCSC Ensembl
chr2:220024235..220024310hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4995n152
Supporting Variantsnssv14460264
SamplesHG00733
Known GenesNHEJ1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3202987
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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