A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4753481



Internal ID20529341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:208128720..208128720hg38UCSC Ensembl
chr2:208993444..208993444hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg38302
hg19302
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16266175
Samples
Known GenesCRYGC, LOC100507443
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4753481
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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