A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17487969



Internal ID22545886
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:14375536..14377935hg38UCSC Ensembl
chr21:15747857..15750256hg19UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg382400
hg192400
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5884406
Supporting Variants
Samples
Known GenesHSPA13
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17487969
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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