A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv565248



Internal ID16352657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:79638233..79644566hg38UCSC Ensembl
Innerchr14:80104576..80110909hg19UCSC Ensembl
Innerchr14:79174329..79180662hg18UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg386334
hg196334
hg186334
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv829640, nssv829641
Samples
Known GenesNRXN3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv565248
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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