A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14437044



Internal ID22180232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:151164703..151165775hg38UCSC Ensembl
chr6:151485838..151486910hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg381073
hg191073
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3190258
Supporting Variants
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a AluS mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14437044
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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