A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17998162



Internal ID20565202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:21205518..21206003hg38UCSC Ensembl
chr12:21358452..21358937hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38486
hg19486
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6472578
Supporting Variants
Samples
Known GenesSLCO1B1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17998162
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00048


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