A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17683834



Internal ID107500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:212123849..212128889hg38UCSC Ensembl
chr1:212297191..212302231hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg385041
hg195041
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5438192
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17683834
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000468


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