A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17453855



Internal ID22511730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:123593599..123595737hg38UCSC Ensembl
chr12:124078146..124080284hg19UCSC 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 Variantsnsv5864019
Supporting Variants
Samples
Known GenesTMED2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17453855
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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