A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6471334



Internal ID21128887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:84785495..85354199hg38UCSC Ensembl
chr12:85179274..85747977hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg38568705
hg19568704
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18196010
Samples
Known GenesALX1, LRRIQ1, SLC6A15, TSPAN19
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6471334
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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