A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18181461



Internal ID20748501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:676203..965963hg38UCSC Ensembl
chr12:785369..1075129hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38289761
hg19289761
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6472806
Supporting Variants
Samples
Known GenesRAD52, WNK1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18181461
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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