A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1011659



Internal ID18754193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:109953185..110226092hg38UCSC Ensembl
Innerchr2:110710762..110983669hg19UCSC Ensembl
Innerchr2:110068051..110340958hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38272908
hg19272908
hg18272908
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4038n100
Supporting Variantsnssv3580151
Samples
Known GenesLIMS3-LOC440895, LINC00116, LINC01123, LOC100288570, LOC100507334, LOC440895, MALL, MIR4267, MIR4436B1, MIR4436B2, NPHP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1011659
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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