A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3543434



Internal ID22412490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:36661642..36661642hg38UCSC Ensembl
chr19:37152544..37152544hg19UCSC Ensembl
Cytoband19q13.12
Allele length
AssemblyAllele length
hg383166
hg193166
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14393523
SamplesNA19240
Known GenesZNF461
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)nsv3543434
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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