A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18001978



Internal ID20569018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:57804677..57807612hg38UCSC Ensembl
chr12:58198460..58201395hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg382936
hg192936
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6462128
Supporting Variants
Samples
Known GenesAVIL
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18001978
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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