A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5471007



Internal ID248752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:56066488..56090217hg38UCSC Ensembl
chr6:55931286..55955015hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg3823730
hg1923730
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16982878
Samples
Known GenesCOL21A1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5471007
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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