A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17399178



Internal ID22457048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:42715716..42715797hg38UCSC Ensembl
chr21:44135826..44135907hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3882
hg1982
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5963815
Supporting Variants
Samples
Known GenesPDE9A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17399178
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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