A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17492542



Internal ID22550469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:47344855..47348395hg38UCSC Ensembl
chr3:47386345..47389885hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg383541
hg193541
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5836022
Supporting Variants
Samples
Known GenesKLHL18
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17492542
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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