A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17997150



Internal ID20564190
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:116560188..116578549hg38UCSC Ensembl
chr12:116997993..117016354hg19UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg3818362
hg1918362
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6484226
Supporting Variants
Samples
Known GenesMAP1LC3B2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17997150
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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