A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18196068



Internal ID20763108
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:122261799..122275427hg38UCSC Ensembl
chr12:122746346..122759974hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3813629
hg1913629
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6482653
Supporting Variants
Samples
Known GenesCLIP1, VPS33A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18196068
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00127


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