A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4445251



Internal ID22111431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:39234380..39234380hg38UCSC Ensembl
chr1:39700052..39700052hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg38465
hg19465
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15759276
Samples
Known GenesMACF1
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=SIMPLEINS
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4445251
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