A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17468043



Internal ID22525932
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:216005647..216013549hg38UCSC Ensembl
chr1:216178989..216186891hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg387903
hg197903
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5829192
Supporting Variants
Samples
Known GenesUSH2A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17468043
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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