A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6340242



Internal ID20997795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:158577167..158577542hg38UCSC Ensembl
chr2:159433679..159434054hg19UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg38376
hg19376
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18079867
Samples
Known GenesPKP4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6340242
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