A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18003365



Internal ID20570405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:75326132..75326503hg38UCSC Ensembl
chr12:75719912..75720283hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg38372
hg19372
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6468476
Supporting Variants
Samples
Known GenesCAPS2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18003365
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00075


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