A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18180671



Internal ID20747711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:131779101..131917400hg38UCSC Ensembl
chr12:132263646..132401945hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38138300
hg19138300
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6488648
Supporting Variants
Samples
Known GenesMMP17, SFSWAP, ULK1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18180671
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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