A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv582654



Internal ID16023377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:109937987..110225743hg38UCSC Ensembl
Innerchr2:110695564..110983320hg19UCSC Ensembl
Innerchr2:110052853..110340609hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38287757
hg19287757
hg18287757
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv916029
Samples
Known GenesLIMS3-LOC440895, LINC00116, LINC01123, LOC100288570, LOC100507334, LOC440895, MALL, MIR4267, MIR4436B1, MIR4436B2, NPHP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv582654
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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