A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv592530



Internal ID16379939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:173524544..173583247hg38UCSC Ensembl
Innerchr3:173242334..173301037hg19UCSC Ensembl
Innerchr3:174725028..174783731hg18UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg3858704
hg1958704
hg1858704
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8733n54
Supporting Variantsnssv981288
Samples
Known GenesNLGN1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv592530
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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