A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18079873



Internal ID20646913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:158611201..158612700hg38UCSC Ensembl
chr2:159467713..159469212hg19UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg381500
hg191500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6355097
Supporting Variants
Samples
Known GenesPKP4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18079873
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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