A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16917230



Internal ID12227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:109743550..110910000hg38UCSC Ensembl
chr2:110501127..111667577hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg381166451
hg191166451
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5435509
Supporting Variants
Samples
Known GenesACOXL, BUB1, LIMS3, LIMS3L, LIMS3-LOC440895, LINC00116, LINC01106, LINC01123, LOC100288570, LOC100507334, LOC440895, MALL, MIR4267, MIR4436B1, MIR4436B2, NPHP1, RGPD5, RGPD6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16917230
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000313


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