A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17458122



Internal ID22516003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:206008516..206018514hg38UCSC Ensembl
chr1:206322854..206332221hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg389999
hg199368
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5829098
Supporting Variants
Samples
Known GenesCTSE
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17458122
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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