A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18003054



Internal ID20570094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:66312801..66315300hg38UCSC Ensembl
chr12:66706581..66709080hg19UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg382500
hg192500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6461148
Supporting Variants
Samples
Known GenesHELB
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18003054
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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