A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557885



Internal ID16345294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:28546231..28582663hg38UCSC Ensembl
Innerchr12:28699164..28735596hg19UCSC Ensembl
Innerchr12:28590431..28626863hg18UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg3836433
hg1936433
hg1836433
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2437n54
Supporting Variantsnssv790142, nssv790141
Samples
Known GenesCCDC91
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557885
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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