A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5461383



Internal ID239337
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:12523971..12902145hg38UCSC Ensembl
chr5:12524083..12902257hg19UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38378175
hg19378175
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16962027
Samples
Known GenesCT49
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5461383
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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