A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15761296



Internal ID22095783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:191397910..191397910hg38UCSC Ensembl
chr2:192262636..192262636hg19UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg38304
hg19304
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4449546
Supporting Variants
Samples
Known GenesMYO1B
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=DUP
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nssv15761296
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