A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv528930



Internal ID15456223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:186943603..186967277hg38UCSC Ensembl
Innerchr2:187808330..187832004hg19UCSC Ensembl
Innerchr2:187516575..187540249hg18UCSC Ensembl
Innerchr2:187633836..187657510hg17UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg3823675
hg1923675
hg1823675
hg1723675
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv705620
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv528930
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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