A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17495555



Internal ID22553488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:138403806..138408109hg38UCSC Ensembl
chr5:137739495..137743798hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg384304
hg194304
Variant TypeOTHER copy number variation
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5841147
Supporting Variants
Samples
Known GenesKDM3B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17495555
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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