A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17486282



Internal ID22544196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:127454591..127463965hg38UCSC Ensembl
chr2:128212167..128221541hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg389375
hg199375
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5831461
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17486282
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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