A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17995948



Internal ID20562988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:105115997..105116419hg38UCSC Ensembl
chr12:105509775..105510197hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38423
hg19423
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6465530
Supporting Variants
Samples
Known GenesKIAA1033
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17995948
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00031


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