A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4437478



Internal ID22103657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:30205127..30205127hg38UCSC Ensembl
chr12:30358060..30358060hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg38118
hg19118
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15764897
Samples
Known Genes
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=DUP
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4437478
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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