A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1013901



Internal ID18756433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:109743923..110226092hg38UCSC Ensembl
Innerchr2:110501500..110983669hg19UCSC Ensembl
Innerchr2:109858789..110340958hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38482170
hg19482170
hg18482170
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4037n100
Supporting Variantsnssv3580126
Samples
Known GenesLIMS3, LIMS3L, LIMS3-LOC440895, LINC00116, LINC01123, LOC100288570, LOC100507334, LOC440895, MALL, MIR4267, MIR4436B1, MIR4436B2, NPHP1, RGPD5, RGPD6, RGPD8
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1013901
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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