A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18000341



Internal ID20567381
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:39574227..39574677hg38UCSC Ensembl
chr12:39968029..39968479hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38451
hg19451
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6468040
Supporting Variants
Samples
Known GenesABCD2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18000341
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00044


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