A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6472275



Internal ID21129828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:75334434..75346633hg38UCSC Ensembl
chr12:75728214..75740413hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg3812200
hg1912200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18179165
Samples
Known GenesCAPS2, GLIPR1L1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6472275
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