A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv953188



Internal ID17302062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:222895483..222897982hg38UCSC Ensembl
Outerchr2:223760201..223762700hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg382500
hg192500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv109n73
Supporting Variantsnssv3003126
SamplesBILGI_BIOE
Known GenesACSL3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv953188
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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