A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3534644



Internal ID22403919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:44146439..44146439hg38UCSC Ensembl
chr6:44114176..44114176hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg38977
hg19977
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14426836
SamplesHG00514
Known GenesTMEM63B
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)nsv3534644
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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