A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548399



Internal ID15989122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:186326798..186384329hg38UCSC Ensembl
Innerchr1:186295930..186353461hg19UCSC Ensembl
Innerchr1:184562553..184620084hg18UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg3857532
hg1957532
hg1857532
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv729846
Samples
Known GenesC1orf27, MIR548F1, TPR
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548399
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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