A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17600438



Internal ID21792485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132095506..132101310hg38UCSC Ensembl
chr12:132580051..132585855hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg385805
hg195805
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6033851
Supporting Variants
Samples
Known GenesEP400NL
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17600438
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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