A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546938



Internal ID16334347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:102984640..103073451hg38UCSC Ensembl
Innerchr1:103450196..103539007hg19UCSC Ensembl
Innerchr1:103222784..103311595hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3888812
hg1988812
hg1888812
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv389n54
Supporting Variantsnssv1173078
SamplesHGDP00580
Known GenesCOL11A1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546938
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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