A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546757



Internal ID16334166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:85946494..86044313hg38UCSC Ensembl
Innerchr1:86412177..86509996hg19UCSC Ensembl
Innerchr1:86184765..86282584hg18UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg3897820
hg1997820
hg1897820
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1173048
SamplesHGDP01198
Known GenesCOL24A1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546757
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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