A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1009367



Internal ID18751898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:109591601..110105777hg38UCSC Ensembl
Innerchr2:110349178..110863354hg19UCSC Ensembl
Innerchr2:109706467..110220643hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38514177
hg19514177
hg18514177
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4037n100
Supporting Variantsnssv3580125
Samples
Known GenesLIMS3, LIMS3L, LIMS3-LOC440895, LINC01123, LOC100288570, LOC100507334, LOC440895, MALL, MIR4267, MIR4436B1, MIR4436B2, RGPD5, RGPD6, RGPD8, SEPT10, SOWAHC
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1009367
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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