A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4441920



Internal ID22108102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:105044600..105044600hg38UCSC Ensembl
chr12:105438378..105438378hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38308
hg19308
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15757424
Samples
Known GenesALDH1L2
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=SIMPLEINS
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4441920
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