A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4448996



Internal ID22115174
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 StatusM
Merged Variants
Supporting Variantsnssv15761586
Samples
Known GenesSLC20A2
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=SIMPLEINS
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4448996
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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