A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4447312



Internal ID22113489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:132698175..132698175hg38UCSC Ensembl
chr7:132382934..132382934hg19UCSC Ensembl
Cytoband7q32.3
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15756857
Samples
Known GenesFLJ40288
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=DUP
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4447312
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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