A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3201342



Internal ID22350668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:41531634..41531842hg38UCSC Ensembl
chr1:41997305..41997513hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38209
hg19209
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv193n152
Supporting Variantsnssv14396283
SamplesNA19240
Known GenesHIVEP3
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3201342
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer