A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16288919



Internal ID20498137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:32348723..32348778hg38UCSC Ensembl
chr12:32501657..32501712hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4741377
Supporting Variants
Samples
Known GenesBICD1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16288919
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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