A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5468905



Internal ID246697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:140976037..140977677hg38UCSC Ensembl
chr5:140355622..140357262hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg381641
hg191641
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16976161
Samples
Known GenesPCDHA1, PCDHA10, PCDHA11, PCDHA12, PCDHA13, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9, PCDHAC1, PCDHAC2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5468905
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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