A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557881



Internal ID16345290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:28383884..28443396hg38UCSC Ensembl
Innerchr12:28536817..28596329hg19UCSC Ensembl
Innerchr12:28428084..28487596hg18UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg3859513
hg1959513
hg1859513
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2435n54
Supporting Variantsnssv1175458
SamplesHGDP01385
Known GenesCCDC91
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557881
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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