A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6399636



Internal ID21057189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:141376091..141384816hg38UCSC Ensembl
chr5:140755658..140764383hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg388726
hg198726
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18125795
Samples
Known GenesPCDHGA1, PCDHGA2, PCDHGA3, PCDHGA4, PCDHGA5, PCDHGA6, PCDHGA7, PCDHGB1, PCDHGB2, PCDHGB3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6399636
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