A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17997825



Internal ID20564865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:121976899..121977916hg38UCSC Ensembl
chr12:122414805..122415822hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg381018
hg191018
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6481635
Supporting Variants
Samples
Known GenesWDR66
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17997825
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00013


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