A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557573



Internal ID16344982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:11422636..11558756hg38UCSC Ensembl
Innerchr12:11575570..11711690hg19UCSC Ensembl
Innerchr12:11466837..11602957hg18UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg38136121
hg19136121
hg18136121
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2382n54
Supporting Variantsnssv1175434
SamplesHGDP00511
Known GenesLOC338817
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557573
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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