A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18003162



Internal ID20570202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:70324255..70324879hg38UCSC Ensembl
chr12:70718035..70718659hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg38625
hg19625
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6465993
Supporting Variants
Samples
Known GenesCNOT2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18003162
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00056


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