A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4441452



Internal ID22107632
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:80627643..80627643hg38UCSC Ensembl
chr10:82387399..82387399hg19UCSC Ensembl
Cytoband10q23.1
Allele length
AssemblyAllele length
hg382757
hg192757
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15760040
Samples
Known GenesSH2D4B
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=SIMPLEINS
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4441452
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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