A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18184800



Internal ID20751840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:128677919..128889384hg38UCSC Ensembl
chr12:129162464..129373929hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg38211466
hg19211466
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6476240
Supporting Variants
Samples
Known GenesGLT1D1, SLC15A4, TMEM132C
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18184800
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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