A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2805304



Internal ID21250642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:11330941..11330941hg38UCSC Ensembl
chr2:11471067..11471067hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38160
hg19160
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13681785, nssv13682024
Samples
Known GenesROCK2
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2805304
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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