A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17451163



Internal ID22509035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:120435688..120438539hg38UCSC Ensembl
chr12:120873491..120876342hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg382852
hg192852
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5857320
Supporting Variants
Samples
Known GenesCOX6A1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17451163
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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