A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1048676



Internal ID15901862
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
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv600836
Supporting Variants
Samples
Known GenesBPHL
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1048676
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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