A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2804713



Internal ID21250051
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:113979921..113979921hg38UCSC Ensembl
chr2:114737498..114737498hg19UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13689073
Samples
Known GenesLOC100499194, LOC440900
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2804713
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