A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15757566



Internal ID22092020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:17768315..17768315hg38UCSC Ensembl
chr1:18094810..18094810hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4444723
Supporting Variants
Samples
Known GenesACTL8
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=SIMPLEINS
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nssv15757566
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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