A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2802446



Internal ID21247784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:94877130..94877130hg38UCSC Ensembl
chr1:95342686..95342686hg19UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg38320
hg19320
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13690087
Samples
Known GenesSLC44A3
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2802446
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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