A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18001514



Internal ID20568554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:54682100..54684015hg38UCSC Ensembl
chr12:55075884..55077799hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg381916
hg191916
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6473573
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18001514
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00013


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