A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3246434



Internal ID22376411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:62784385..62784953hg38UCSC Ensembl
chr17:60861746..60862314hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg38569
hg19569
Variant TypeCNV line1 deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14431332
SamplesHG00514
Known GenesMARCH10, MIR548W
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)nsv3246434
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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