A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4447131



Internal ID22113308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:139769238..139769238hg38UCSC Ensembl
chr7:139469037..139469037hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15763346
Samples
Known GenesHIPK2
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=DUP
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4447131
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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