A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549205



Internal ID16336614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:216992206..217096877hg38UCSC Ensembl
Innerchr1:217165548..217270219hg19UCSC Ensembl
Innerchr1:215232171..215336842hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38104672
hg19104672
hg18104672
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv736967
Samples
Known GenesESRRG
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549205
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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