A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560402



Internal ID16001125
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:119985668..119989653hg38UCSC Ensembl
Innerchr12:120423472..120427457hg19UCSC Ensembl
Innerchr12:118907855..118911840hg18UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg383986
hg193986
hg183986
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2907n54
Supporting Variantsnssv803331
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560402
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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