A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16901831



Internal ID2015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:45616939..45631396hg38UCSC Ensembl
chr1:46082611..46097068hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg3814458
hg1914458
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5416550
Supporting Variants
Samples
Known GenesCCDC17, GPBP1L1, NASP
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16901831
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001562


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