A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548057



Internal ID15988780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:160777825..160882256hg38UCSC Ensembl
Innerchr1:160747615..160852046hg19UCSC Ensembl
Innerchr1:159014239..159118670hg18UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38104432
hg19104432
hg18104432
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv727675
Samples
Known GenesCD244, ITLN1, LY9
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548057
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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