A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548072



Internal ID16335481
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:161605657..161623678hg38UCSC Ensembl
Innerchr1:161575447..161593468hg19UCSC Ensembl
Innerchr1:159842071..159860092hg18UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg3818022
hg1918022
hg1818022
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv727698
Samples
Known GenesFCGR3B, HSPA7
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548072
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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