A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17578672



Internal ID21770715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:129991972..129995001hg38UCSC Ensembl
chr8:131004218..131007247hg19UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg383030
hg193030
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6010465
Supporting Variants
Samples
Known GenesFAM49B
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17578672
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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