A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547433



Internal ID16334842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:109025141..109031762hg38UCSC Ensembl
Innerchr1:109567763..109574384hg19UCSC Ensembl
Innerchr1:109369286..109375907hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg386622
hg196622
hg186622
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv721195, nssv721188, nssv721191, nssv721190, nssv721194, nssv721192, nssv721193, nssv721189, nssv721187
Samples
Known GenesWDR47
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547433
Frequency
Sample Size17421
Observed Gain1
Observed Loss8
Observed Complex0
Frequencyn/a


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