A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17462255



Internal ID22520140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:121966687..121968834hg38UCSC Ensembl
chr12:122404593..122406740hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg382148
hg192148
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5852487
Supporting Variants
Samples
Known GenesWDR66
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17462255
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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