A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547448



Internal ID16334857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:109030661..109035828hg38UCSC Ensembl
Innerchr1:109573283..109578450hg19UCSC Ensembl
Innerchr1:109374806..109379973hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg385168
hg195168
hg185168
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv495n54
Supporting Variantsnssv721426
Samples
Known GenesWDR47
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547448
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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