A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3580131



Internal ID18531726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:109946455..110226092hg38UCSC Ensembl
Innerchr2:110704032..110983669hg19UCSC Ensembl
Innerchr2:110061321..110340958hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38279638
hg19279638
hg18279638
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1010477
Supporting Variants
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)nssv3580131
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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