A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16902763



Internal ID2657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:52031339..52031377hg38UCSC Ensembl
chr1:52497011..52497049hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38189
hg19189
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5543590
Supporting Variants
Samples
Known GenesTXNDC12
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16902763
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000937


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