A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18000737



Internal ID20567777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:32133419..32142337hg38UCSC Ensembl
chr12:32286353..32295271hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg388919
hg198919
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6464020
Supporting Variants
Samples
Known GenesBICD1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18000737
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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