A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3204750



Internal ID22353556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:18635771..18635916hg38UCSC Ensembl
chr2:18817037..18817182hg19UCSC Ensembl
Cytoband2p24.2
Allele length
AssemblyAllele length
hg38146
hg19146
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4510n152
Supporting Variantsnssv14407516
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3204750
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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