A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17614481



Internal ID21806528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:50872626..50872711hg38UCSC Ensembl
chr12:51266409..51266494hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg3886
hg1986
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6036218
Supporting Variants
Samples
Known GenesTMPRSS12
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17614481
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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