A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17054268



Internal ID104007
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:14957154..14957205hg38UCSC Ensembl
chr12:15110088..15110139hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg381324
hg191324
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5564055
Supporting Variants
Samples
Known GenesARHGDIB
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17054268
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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