A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1010477



Internal ID18753008
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+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3580136, nssv3580133, nssv3580134, nssv3580131, nssv3580132, nssv3580135, nssv3580137
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)nsv1010477
Frequency
Sample Size29084
Observed Gain4
Observed Loss3
Observed Complex0
Frequencyn/a


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