A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549183



Internal ID15989906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:215687122..215688415hg38UCSC Ensembl
Innerchr1:215860464..215861757hg19UCSC Ensembl
Innerchr1:213927087..213928380hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg381294
hg191294
hg181294
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv736939, nssv736940, nssv736938
Samples
Known GenesUSH2A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549183
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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