A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6049090



Internal ID21958323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:222513682..222513682hg38UCSC Ensembl
chr2:223378401..223378401hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17525308
Samples
Known GenesSGPP2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6049090
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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