A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18192129



Internal ID20759169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:51643001..51646600hg38UCSC Ensembl
chr12:52036785..52040384hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg383600
hg193600
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6470030
Supporting Variants
Samples
Known GenesSCN8A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18192129
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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