A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv601212



Internal ID16041935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:28865448..28926150hg38UCSC Ensembl
Innerchr6:28833225..28893927hg19UCSC Ensembl
Innerchr6:28941204..29001906hg18UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg3860703
hg1960703
hg1860703
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1154036
SamplesNINDS_178
Known GenesHCG14, TRIM27
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv601212
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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