A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18005708



Internal ID20572748
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:87669425..87863288hg38UCSC Ensembl
chr12:88063202..88257065hg19UCSC Ensembl
Cytoband12q21.32
Allele length
AssemblyAllele length
hg38193864
hg19193864
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6470919
Supporting Variants
Samples
Known GenesMKRN9P
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18005708
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00015


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