A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4443684



Internal ID22109865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:11168193..11168288hg38UCSC Ensembl
chr12:11320792..11320887hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3896
hg1996
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15758742
Samples
Known GenesPRH1-PRR4
MethodSequencing
Analysis
Platform
CommentsSVTYPE=DEL;REPTYPE=SIMPLEDEL
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4443684
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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