A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18192807



Internal ID20759847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:49082455..49099712hg38UCSC Ensembl
chr12:49476238..49493495hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg3817258
hg1917258
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6471665
Supporting Variants
Samples
Known GenesDHH, LMBR1L
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18192807
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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