A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3580127



Internal ID18531722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:109746757..110327308hg38UCSC Ensembl
Innerchr2:110504334..111084885hg19UCSC Ensembl
Innerchr2:109861623..110519397hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38580552
hg19580552
hg18657775
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1003103
Supporting Variants
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)nssv3580127
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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