A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17494998



Internal ID22552930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:178432876..178484973hg38UCSC Ensembl
chr5:177859877..177911974hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3852098
hg1952098
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5842499
Supporting Variants
Samples
Known GenesCOL23A1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17494998
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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