A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6341813



Internal ID20999366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:158647432..158651268hg38UCSC Ensembl
chr2:159503944..159507780hg19UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg383837
hg193837
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18079874
Samples
Known GenesPKP4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6341813
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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