A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17357291



Internal ID22582960
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:118712022..118718457hg38UCSC Ensembl
chr1:119254645..119261080hg19UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg386436
hg196436
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5882454
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17357291
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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