A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4444471



Internal ID22110651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:62830651..62830651hg38UCSC Ensembl
chr20:61462003..61462003hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38249
hg19249
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15759020
Samples
Known GenesCOL9A3
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=SIMPLEINS
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4444471
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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