A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17997122



Internal ID20564162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:116019808..116020226hg38UCSC Ensembl
chr12:116457613..116458031hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg38419
hg19419
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6493072
Supporting Variants
Samples
Known GenesMED13L
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17997122
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00087


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