A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6335919



Internal ID20993472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:69562975..69564103hg38UCSC Ensembl
chr2:69790107..69791235hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg381129
hg191129
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18088890
Samples
Known GenesAAK1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6335919
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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