A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17486151



Internal ID22544064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:47531223..47534022hg38UCSC Ensembl
chr2:47758362..47761161hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg382800
hg192800
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5833272
Supporting Variants
Samples
Known GenesKCNK12
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17486151
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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