A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3926494



Internal ID21346563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:95476532..95476532hg38UCSC Ensembl
chr12:95870308..95870308hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg38136
hg19136
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15192490
SamplesHG002
Known GenesMETAP2
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3926494
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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