A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3555006



Internal ID22423855
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:6438313..6438313hg38UCSC Ensembl
chr17:6341633..6341633hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg38118
hg19118
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14418622, nssv14446504
SamplesHG00733, HG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences detected as low complexity by RepeatMasker/3.3.0
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3555006
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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