A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3237765



Internal ID22373968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:71438340..71438702hg38UCSC Ensembl
chr6:72148043..72148405hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg38363
hg19363
Variant TypeCNV line1 deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14436299
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a L1P mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3237765
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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