A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16898579



Internal ID173190
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:232406697..232412559hg38UCSC Ensembl
chr1:232542443..232548305hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg385863
hg195863
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5559305
Supporting Variants
Samples
Known GenesSIPA1L2
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16898579
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000156


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