A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16907690



Internal ID5907
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:111651835..111669917hg38UCSC Ensembl
chr1:112194457..112212539hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg3818083
hg1918083
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6138296
Supporting Variants
Samples
Known GenesRAP1A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16907690
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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