A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547891



Internal ID15988614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:152583609..152797970hg38UCSC Ensembl
Innerchr1:152556085..152770446hg19UCSC Ensembl
Innerchr1:150822709..151037070hg18UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38214362
hg19214362
hg18214362
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv724513, nssv724512
Samples
Known GenesC1orf68, KPRP, LCE1D, LCE1E, LCE1F, LCE2A, LCE2B, LCE2C, LCE2D, LCE3A, LCE3B, LCE3C, LCE4A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547891
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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