A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17547718



Internal ID21872073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:186612839..187026345hg38UCSC Ensembl
chr3:186330628..186744133hg19UCSC Ensembl
Cytoband3q27.3
Allele length
AssemblyAllele length
hg38413507
hg19413506
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5992284
Supporting Variants
Samples
Known GenesADIPOQ, ADIPOQ-AS1, AHSG, EIF4A2, FETUB, HRG, KNG1, MIR1248, RFC4, SNORA4, SNORA63, SNORA81, SNORD2, ST6GAL1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17547718
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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