A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17467246



Internal ID22525137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:82723326..82725225hg38UCSC Ensembl
chr12:83117105..83119004hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg381900
hg191900
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5858966
Supporting Variants
Samples
Known GenesTMTC2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17467246
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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