A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4446040



Internal ID22112219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:9998449..9998449hg38UCSC Ensembl
chr2:10138577..10138577hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38328
hg19328
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15760790
Samples
Known GenesGRHL1
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=SIMPLEINS
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4446040
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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