A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5439171



Internal ID217713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:46970724..48057041hg38UCSC Ensembl
chr2:47197863..48284180hg19UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg381086318
hg191086318
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16913276
Samples
Known GenesC2orf61, CALM2, EPCAM, FBXO11, KCNK12, MIR559, MSH2, MSH6, TTC7A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5439171
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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