A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557613



Internal ID15998336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:14922268..14948501hg38UCSC Ensembl
Innerchr12:15075202..15101435hg19UCSC Ensembl
Innerchr12:14966469..14992702hg18UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg3826234
hg1926234
hg1826234
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1176248
SamplesHGDP01090
Known GenesARHGDIB, ERP27
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557613
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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