A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17997333



Internal ID20564373
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:11865177..11869132hg38UCSC Ensembl
chr12:12018111..12022066hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg383956
hg193956
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6471959
Supporting Variants
Samples
Known GenesETV6, RNU6-19P
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17997333
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.0001


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