A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547899



Internal ID16335308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:152699529..153272606hg38UCSC Ensembl
Innerchr1:152672005..153245082hg19UCSC Ensembl
Innerchr1:150938629..151511706hg18UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38573078
hg19573078
hg18573078
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv724535
Samples
Known GenesC1orf68, IVL, KPRP, LCE1A, LCE1B, LCE1C, LCE1D, LCE1E, LCE1F, LCE4A, LCE6A, LELP1, LOR, PRR9, SMCP, SPRR1A, SPRR1B, SPRR2A, SPRR2B, SPRR2C, SPRR2D, SPRR2E, SPRR2F, SPRR2G, SPRR3, SPRR4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547899
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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