A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18183449



Internal ID20750489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:102018620..102019172hg38UCSC Ensembl
chr12:102412398..102412950hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg38553
hg19553
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6471109
Supporting Variants
Samples
Known GenesCCDC53
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18183449
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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