A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14436522



Internal ID22179671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:6029566..6029710hg38UCSC Ensembl
chr6:6029799..6029943hg19UCSC Ensembl
Cytoband6p25.1
Allele length
AssemblyAllele length
hg38145
hg19145
Variant TypeCNV herv deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3210746
Supporting Variants
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)nssv14436522
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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