A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18000700



Internal ID20567740
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:31794240..31810888hg38UCSC Ensembl
chr12:31947174..31963822hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3816649
hg1916649
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6466720
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18000700
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00015


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