A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15761586



Internal ID22096080
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:42520414..42520414hg38UCSC Ensembl
chr8:42377937..42377937hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg382383
hg192383
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4448996
Supporting Variants
Samples
Known GenesSLC20A2
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=SIMPLEINS
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nssv15761586
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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