A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557879



Internal ID16345288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:28365626..28476043hg38UCSC Ensembl
Innerchr12:28518559..28628976hg19UCSC Ensembl
Innerchr12:28409826..28520243hg18UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg38110418
hg19110418
hg18110418
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1175456
SamplesNINDS_223
Known GenesCCDC91
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557879
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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