A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18187731



Internal ID20754771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:129871346..130315340hg38UCSC Ensembl
chr12:130355891..130799885hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38443995
hg19443995
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6487263
Supporting Variants
Samples
Known GenesFZD10, FZD10-AS1, LOC100190940, TMEM132D
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18187731
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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