A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549265



Internal ID16336674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:225208257..225274644hg38UCSC Ensembl
Innerchr1:225395959..225462346hg19UCSC Ensembl
Innerchr1:223462582..223528969hg18UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg3866388
hg1966388
hg1866388
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv737363
Samples
Known GenesDNAH14
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549265
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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