A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4754333



Internal ID20530193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:200330210..200330210hg38UCSC Ensembl
chr2:201194933..201194933hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38178
hg19178
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16277525
Samples
Known GenesSPATS2L
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4754333
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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