A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547968



Internal ID15988691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:156282346..156294857hg38UCSC Ensembl
Innerchr1:156252137..156264648hg19UCSC Ensembl
Innerchr1:154518761..154531272hg18UCSC Ensembl
Cytoband1q22
Allele length
AssemblyAllele length
hg3812512
hg1912512
hg1812512
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv724912
Samples
Known GenesC1orf85, SMG5, TMEM79
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547968
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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