A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6469664



Internal ID21127217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:3737205..3762325hg38UCSC Ensembl
chr12:3846371..3871491hg19UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg3825121
hg1925121
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18000175
Samples
Known GenesEFCAB4B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6469664
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