A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1048675



Internal ID15555175
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:3143886..3145799hg38UCSC Ensembl
Innerchr6:3144120..3146033hg19UCSC Ensembl
Innerchr6:3089119..3091032hg18UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg381914
hg191914
hg181914
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv600835
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)nssv1048675
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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