A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5969500



Internal ID22744435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:51540657..51540657hg38UCSC Ensembl
chr20:50157196..50157196hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg3893
hg1993
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17403839
Samples
Known GenesNFATC2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5969500
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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