A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4442089



Internal ID22108272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:71750650..71750709hg38UCSC Ensembl
chr5:71046477..71046536hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15759340
Samples
Known Genes
MethodSequencing
Analysis
Platform
CommentsSVTYPE=DEL;REPTYPE=CONTRAC
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4442089
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