A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16907414



Internal ID5730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:75669246..75673052hg38UCSC Ensembl
chr1:76134931..76138737hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg383807
hg193807
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5420893
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16907414
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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