A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5470729



Internal ID248479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:140363594..140363646hg38UCSC Ensembl
chr5:139743179..139743231hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16974471
Samples
Known GenesSLC4A9
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5470729
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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