A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18006155



Internal ID20573195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:98736473..98737040hg38UCSC Ensembl
chr12:99130251..99130818hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg38568
hg19568
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6460314
Supporting Variants
Samples
Known GenesANKS1B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18006155
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00047


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