A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2804974



Internal ID21250312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:11618129..11618129hg38UCSC Ensembl
chr2:11758255..11758255hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13680872
Samples
Known GenesGREB1
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2804974
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer