A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17485044



Internal ID22542955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:131032928..131034735hg38UCSC Ensembl
chr3:130751772..130753579hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg381808
hg191808
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5834655
Supporting Variants
Samples
Known GenesNEK11
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17485044
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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