A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2800728



Internal ID21246066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:243928301..243928301hg38UCSC Ensembl
chr1:244091603..244091603hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13682608
Samples
Known GenesLOC339529
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2800728
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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