A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516443



Internal ID15097050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:237797485..237861249hg38UCSC Ensembl
Innerchr2:238706128..238769892hg19UCSC Ensembl
Innerchr2:238370867..238434631hg18UCSC Ensembl
Innerchr2:238488128..238551892hg17UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3863765
hg1963765
hg1863765
hg1763765
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv696281, nssv684695, nssv668452
Samples
Known GenesRAMP1, RBM44
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516443
Frequency
Sample Size2026
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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