A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548245



Internal ID16335654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:175461719..175803242hg38UCSC Ensembl
Innerchr1:175430855..175772378hg19UCSC Ensembl
Innerchr1:173697478..174039001hg18UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg38341524
hg19341524
hg18341524
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv637n54
Supporting Variantsnssv729107
Samples
Known GenesTNR
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548245
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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