A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6615992



Internal ID20989063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:118376003..118696124hg38UCSC Ensembl
chr6:118697166..119017287hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg38320122
hg19320122
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18214546
Samples
Known GenesBRD7P3, CEP85L, PLN
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6615992
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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