A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16898332



Internal ID173032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:230275431..230275698hg38UCSC Ensembl
chr1:230411177..230411444hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38268
hg19268
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5434271
Supporting Variants
Samples
Known GenesGALNT2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16898332
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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