A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17488514



Internal ID22546431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:36053992..36059223hg38UCSC Ensembl
chr21:37426290..37431521hg19UCSC Ensembl
Cytoband21q22.12
Allele length
AssemblyAllele length
hg385232
hg195232
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5868282
Supporting Variants
Samples
Known GenesSETD4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17488514
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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