A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1048723



Internal ID15555223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:5089044..5400425hg38UCSC Ensembl
Innerchr6:5089278..5400658hg19UCSC Ensembl
Innerchr6:5034277..5345657hg18UCSC Ensembl
Cytoband6p25.1
Allele length
AssemblyAllele length
hg38311382
hg19311381
hg18311381
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv600873
Supporting Variants
Samples
Known GenesFARS2, LYRM4, MIR3691
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1048723
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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