A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559648



Internal ID16000371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:84855439..84945475hg38UCSC Ensembl
Innerchr12:85249218..85339254hg19UCSC Ensembl
Innerchr12:83773349..83863385hg18UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3890037
hg1990037
hg1890037
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2762n54
Supporting Variantsnssv1176324
Samples1782681093_A
Known GenesSLC6A15
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559648
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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