A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6092810



Internal ID22002043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:26795518..26795518hg38UCSC Ensembl
chr12:26948451..26948451hg19UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg3886
hg1986
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17603672
Samples
Known GenesITPR2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6092810
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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