A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5448648



Internal ID226915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:27676139..27676951hg38UCSC Ensembl
chr2:27899006..27899818hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg38813
hg19813
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16910349
Samples
Known GenesSLC4A1AP
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5448648
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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