A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559464



Internal ID16000187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:80798063..80835365hg38UCSC Ensembl
Innerchr12:81191842..81229144hg19UCSC Ensembl
Innerchr12:79715973..79753275hg18UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3837303
hg1937303
hg1837303
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv798918
Samples
Known GenesLIN7A, MIR617
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559464
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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