A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4448151



Internal ID22114329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:174937711..174937711hg38UCSC Ensembl
chr1:174906848..174906848hg19UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg381094
hg191094
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15763068
Samples
Known GenesRABGAP1L
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=SIMPLEDEL
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4448151
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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