A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17480496



Internal ID22538399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:51449432..51451806hg38UCSC Ensembl
chr1:51915104..51917478hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg382375
hg192375
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5830054
Supporting Variants
Samples
Known GenesEPS15
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17480496
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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