A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17997416



Internal ID20564456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:120042601..120050100hg38UCSC Ensembl
chr12:120480405..120487904hg19UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg387500
hg197500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6482812
Supporting Variants
Samples
Known GenesCCDC64
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17997416
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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