A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16896992



Internal ID172149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:212951818..212952427hg38UCSC Ensembl
chr1:213125160..213125769hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg38610
hg19610
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5449878
Supporting Variants
Samples
Known GenesVASH2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16896992
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000624


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