A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4447210



Internal ID22113387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:62730862..62730862hg38UCSC Ensembl
chr2:62957997..62957997hg19UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg38749
hg19749
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15759092
Samples
Known GenesEHBP1
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=SUBSINS
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4447210
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