A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5559305



Internal ID332342
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 StatusM
Merged Variants
Supporting Variantsnssv16898579
Samples
Known GenesSIPA1L2
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5559305
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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