A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17450031



Internal ID22507902
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:120004483..120005521hg38UCSC Ensembl
chr12:120442287..120443325hg19UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg381039
hg191039
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5855647
Supporting Variants
Samples
Known GenesCCDC64
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17450031
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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