A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4449228



Internal ID22115405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:6504188..6504188hg38UCSC Ensembl
chr12:6613354..6613354hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3890
hg1990
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15756327
Samples
Known GenesNCAPD2
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=SIMPLEINS
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4449228
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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