A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18006131



Internal ID20573171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:98560501..98565200hg38UCSC Ensembl
chr12:98954279..98958978hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg384700
hg194700
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6471536
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18006131
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.04692


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