A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16890929



Internal ID168130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:156809771..156810911hg38UCSC Ensembl
chr1:156779563..156780703hg19UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg381141
hg191141
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5414546
Supporting Variants
Samples
Known GenesSH2D2A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16890929
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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