A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4438005



Internal ID22104186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:31515468..31515468hg38UCSC Ensembl
chr17:29842486..29842486hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38360
hg19360
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15767533
Samples
Known GenesRAB11FIP4
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=SUBSINS
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4438005
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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