A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547325



Internal ID16334734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:106335695..106413437hg38UCSC Ensembl
Innerchr1:106878317..106956059hg19UCSC Ensembl
Innerchr1:106679840..106757582hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3877743
hg1977743
hg1877743
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv720714
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547325
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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