A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16896448



Internal ID171781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:231830661..232122782hg38UCSC Ensembl
chr1:231966407..232258528hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg38292122
hg19292122
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5557115
Supporting Variants
Samples
Known GenesDISC1, TSNAX-DISC1
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16896448
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.047612


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