A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5886991



Internal ID22661981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:73237556..73237628hg38UCSC Ensembl
chr2:73464684..73464756hg19UCSC Ensembl
Cytoband2p13.2
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17398762
Samples
Known GenesCCT7
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5886991
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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