A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv581714



Internal ID16022437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:45413667..45414736hg38UCSC Ensembl
Innerchr2:45640806..45641875hg19UCSC Ensembl
Innerchr2:45494310..45495379hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg381070
hg191070
hg181070
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6842n54
Supporting Variantsnssv908050
Samples
Known GenesSRBD1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv581714
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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