A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17997145



Internal ID20564185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:116499776..116505915hg38UCSC Ensembl
chr12:116937581..116943720hg19UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg386140
hg196140
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6493156
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17997145
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.0002


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