A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv983483



Internal ID18271991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:27494958..27501970hg38UCSC Ensembl
Innerchr12:27647891..27654903hg19UCSC Ensembl
Innerchr12:27539158..27546170hg18UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg387013
hg197013
hg187013
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2762169
SamplesHGDP01284
Known GenesSMCO2
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv983483
Frequency
Sample Size10
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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