A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3534335



Internal ID22403624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:37501964..37501964hg38UCSC Ensembl
chr6:37469740..37469740hg19UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg382590
hg192590
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14426437
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3534335
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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