A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2805281



Internal ID21250619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:10399419..10399419hg38UCSC Ensembl
chr2:10539545..10539545hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38471
hg19471
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13681985
Samples
Known GenesHPCAL1
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2805281
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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