A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557572



Internal ID16344981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:11422636..11540187hg38UCSC Ensembl
Innerchr12:11575570..11693121hg19UCSC Ensembl
Innerchr12:11466837..11584388hg18UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg38117552
hg19117552
hg18117552
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2382n54
Supporting Variantsnssv1175433
SamplesHGDP00532
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557572
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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