A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6459127



Internal ID21116680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:85015603..85099893hg38UCSC Ensembl
chr12:85409382..85493671hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3884291
hg1984290
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18191334
Samples
Known GenesLRRIQ1, TSPAN19
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6459127
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer