A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17450265



Internal ID22508135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:123593899..123596037hg38UCSC Ensembl
chr12:124078446..124080584hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg382139
hg192139
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5864495
Supporting Variants
Samples
Known GenesTMED2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17450265
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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