A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17499921



Internal ID22557857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:69295938..69301702hg38UCSC Ensembl
chr5:68591765..68597529hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg385765
hg195765
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5843467
Supporting Variants
Samples
Known GenesCCDC125
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17499921
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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