A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5989900



Internal ID21899243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:74330646..74331300hg38UCSC Ensembl
chr2:74557773..74558427hg19UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg38655
hg19655
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17529188
Samples
Known GenesSLC4A5
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5989900
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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