A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549700



Internal ID15990423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248587139..248623852hg38UCSC Ensembl
Innerchr1:248750440..248787153hg19UCSC Ensembl
Innerchr1:246817063..246853776hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3836714
hg1936714
hg1836714
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv918n54
Supporting Variantsnssv740009, nssv740010, nssv740008, nssv740011
Samples
Known GenesOR2T10
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549700
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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