A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549197



Internal ID15989920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:216041119..216051598hg38UCSC Ensembl
Innerchr1:216214461..216224940hg19UCSC Ensembl
Innerchr1:214281084..214291563hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3810480
hg1910480
hg1810480
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv819n54
Supporting Variantsnssv736961
Samples
Known GenesUSH2A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549197
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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