A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003103



Internal ID18745635
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 gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3580129, nssv3729173, nssv3580127, nssv3580128
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)nsv1003103
Frequency
Sample Size29084
Observed Gain2
Observed Loss2
Observed Complex0
Frequencyn/a


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