A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547227



Internal ID16334636
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:105095292..105243768hg38UCSC Ensembl
Innerchr1:105637914..105786390hg19UCSC Ensembl
Innerchr1:105439437..105587913hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38148477
hg19148477
hg18148477
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1173084
Samples1782681378_A
Known GenesMIR548H3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547227
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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