A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4440156



Internal ID22106334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:46313713..46315114hg38UCSC Ensembl
chr19:46816970..46818371hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg381402
hg191402
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15762076
Samples
Known GenesHIF3A
MethodSequencing
Analysis
Platform
CommentsSVTYPE=DEL;REPTYPE=SIMPLEDEL
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4440156
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