A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5833272



Internal ID22608207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:47531223..47534022hg38UCSC Ensembl
chr2:47758362..47761161hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg382800
hg192800
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17486151
Samples
Known GenesKCNK12
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5833272
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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