A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv600836



Internal ID16388245
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:3143886..3146035hg38UCSC Ensembl
Innerchr6:3144120..3146269hg19UCSC Ensembl
Innerchr6:3089119..3091268hg18UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg382150
hg192150
hg182150
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1048677, nssv1048676
Samples
Known GenesBPHL
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv600836
Frequency
Sample Size17421
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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