A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6463867



Internal ID21121420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:75338254..75342953hg38UCSC Ensembl
chr12:75732034..75736733hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg384700
hg194700
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18003573
Samples
Known GenesCAPS2, GLIPR1L1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6463867
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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