A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557277



Internal ID16344686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7818125..7916285hg38UCSC Ensembl
Innerchr12:7970721..8068881hg19UCSC Ensembl
Innerchr12:7861988..7960148hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3898161
hg1998161
hg1898161
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2328n54
Supporting Variantsnssv1175760
SamplesHGDP00929
Known GenesSLC2A14
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557277
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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