A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4448961



Internal ID22115139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:1204746..1204746hg38UCSC Ensembl
chr16:1254746..1254746hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38211
hg19211
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15761867
Samples
Known GenesCACNA1H
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=DUP
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4448961
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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