A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16976161



Internal ID51507
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 StatusS
Merged Variantsnsv5468905
Supporting Variants
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)nssv16976161
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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