A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3542914



Internal ID22411980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:44178886..44178886hg38UCSC Ensembl
chr6:44146623..44146623hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg381835
hg191835
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14398829
SamplesNA19240
Known GenesCAPN11
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3542914
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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