A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18001285



Internal ID20568325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:50856425..50872899hg38UCSC Ensembl
chr12:51250208..51266682hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg3816475
hg1916475
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6464938
Supporting Variants
Samples
Known GenesTMPRSS12
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18001285
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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