A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3199835



Internal ID22349371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:23790801..23797350hg38UCSC Ensembl
chr1:24117291..24123840hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg386550
hg196550
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv141n152
Supporting Variantsnssv14381880
SamplesNA19240
Known GenesGALE, LYPLA2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3199835
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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