A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18000747



Internal ID20567787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:32296867..32301920hg38UCSC Ensembl
chr12:32449801..32454854hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg385054
hg195054
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6458442
Supporting Variants
Samples
Known GenesBICD1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18000747
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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