A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17480480



Internal ID22538383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:50078911..50109922hg38UCSC Ensembl
chr1:50544583..50575594hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg3831012
hg1931012
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5830239
Supporting Variants
Samples
Known GenesELAVL4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17480480
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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