A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549150



Internal ID16336559
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:212826359..212838470hg38UCSC Ensembl
Innerchr1:212999701..213011812hg19UCSC Ensembl
Innerchr1:211066324..211078435hg18UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg3812112
hg1912112
hg1812112
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv807n54
Supporting Variantsnssv736863
Samples
Known GenesC1orf227
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549150
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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