A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15760272



Internal ID22094755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:125577354..125577354hg38UCSC Ensembl
chr9:128339633..128339633hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg38223
hg19223
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4448036
Supporting Variants
Samples
Known GenesMAPKAP1
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=DUP
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nssv15760272
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