A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16896102



Internal ID171552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:212368798..212369510hg38UCSC Ensembl
chr1:212542140..212542852hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg38713
hg19713
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5435806
Supporting Variants
Samples
Known GenesTMEM206
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16896102
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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