A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5989249



Internal ID21898592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:48562757..48722797hg38UCSC Ensembl
chr2:48789896..48949936hg19UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg38160041
hg19160041
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17528379
Samples
Known GenesGTF2A1L, LHCGR, STON1, STON1-GTF2A1L
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5989249
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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