A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557083



Internal ID16344492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:3016874..3041008hg38UCSC Ensembl
Innerchr12:3126040..3150174hg19UCSC Ensembl
Innerchr12:2996301..3020435hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3824135
hg1924135
hg1824135
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1175410
SamplesNINDS_69
Known GenesTEAD4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557083
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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