A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18125193



Internal ID20692233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:140872954..140879327hg38UCSC Ensembl
chr5:140252539..140258912hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg386374
hg196374
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6404567
Supporting Variants
Samples
Known GenesPCDHA1, PCDHA10, PCDHA11, PCDHA12, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18125193
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer