A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16898580



Internal ID173191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:232408189..232408305hg38UCSC Ensembl
chr1:232543935..232544051hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg38117
hg19117
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5443796
Supporting Variants
Samples
Known GenesSIPA1L2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16898580
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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