A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546110



Internal ID16333519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:42838302..42839330hg38UCSC Ensembl
Innerchr1:43303973..43305001hg19UCSC Ensembl
Innerchr1:43076560..43077588hg18UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg381029
hg191029
hg181029
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv712659
Samples
Known GenesERMAP
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546110
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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