A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17395699



Internal ID22453569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:100451741..100451797hg38UCSC Ensembl
chr3:100170585..100170641hg19UCSC Ensembl
Cytoband3q12.2
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5899642
Supporting Variants
Samples
Known GenesLNP1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17395699
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.006


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