A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560317



Internal ID16001040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:116277205..116278002hg38UCSC Ensembl
Innerchr12:116715010..116715807hg19UCSC Ensembl
Innerchr12:115199393..115200190hg18UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg38798
hg19798
hg18798
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2892n54
Supporting Variantsnssv802846, nssv802843, nssv802844, nssv802848, nssv802845, nssv802847
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560317
Frequency
Sample Size17421
Observed Gain2
Observed Loss4
Observed Complex0
Frequencyn/a


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