A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5961467



Internal ID22736416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:36485455..36490634hg38UCSC Ensembl
chr21:37857753..37862932hg19UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg385180
hg195180
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17407902
Samples
Known GenesCLDN14
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5961467
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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