A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5468630



Internal ID246425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:71604065..71604235hg38UCSC Ensembl
chr5:70899892..70900062hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38171
hg19171
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16966868
Samples
Known GenesMCCC2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5468630
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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