A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17995947



Internal ID20562987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:105107401..105107900hg38UCSC Ensembl
chr12:105501179..105501678hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38500
hg19500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6471931
Supporting Variants
Samples
Known GenesKIAA1033
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17995947
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00668


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