A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17997361



Internal ID20564401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:119040701..119061568hg38UCSC Ensembl
chr12:119478506..119499373hg19UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg3820868
hg1920868
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6479564
Supporting Variants
Samples
Known GenesSRRM4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17997361
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00033


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