A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3223986



Internal ID22367571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:38146343..38146394hg38UCSC Ensembl
chr1:38612015..38612066hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV herv deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14421582
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a HERV mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3223986
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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