A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557878



Internal ID16345287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:28365626..28452493hg38UCSC Ensembl
Innerchr12:28518559..28605426hg19UCSC Ensembl
Innerchr12:28409826..28496693hg18UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg3886868
hg1986868
hg1886868
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2434n54
Supporting Variantsnssv790139
Samples
Known GenesCCDC91
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557878
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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