A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16902046



Internal ID2158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:37546572..37546651hg38UCSC Ensembl
chr1:38012173..38012252hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5418089
Supporting Variants
Samples
Known GenesSNIP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16902046
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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