A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547852



Internal ID15988575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:151870568..151982754hg38UCSC Ensembl
Innerchr1:151843044..151955230hg19UCSC Ensembl
Innerchr1:150109668..150221854hg18UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38112187
hg19112187
hg18112187
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv723515
Samples
Known GenesTHEM4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547852
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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