A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17459555



Internal ID22517440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:82708282..82710260hg38UCSC Ensembl
chr12:83102061..83104039hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg381979
hg191979
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5857399
Supporting Variants
Samples
Known GenesTMTC2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17459555
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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