A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17454036



Internal ID22511911
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:50375221..50384548hg38UCSC Ensembl
chr12:50769004..50778331hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg389328
hg199328
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5853301
Supporting Variants
Samples
Known GenesFAM186A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17454036
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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