A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4448036



Internal ID22114214
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 StatusM
Merged Variants
Supporting Variantsnssv15760272
Samples
Known GenesMAPKAP1
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=DUP
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4448036
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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