A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6336812



Internal ID20994365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:158438063..158466456hg38UCSC Ensembl
chr2:159294575..159322968hg19UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg3828394
hg1928394
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18079859
Samples
Known GenesCCDC148, PKP4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6336812
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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