A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1048722



Internal ID15555222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:4975079..5341957hg38UCSC Ensembl
Innerchr6:4975313..5342190hg19UCSC Ensembl
Innerchr6:4920312..5287189hg18UCSC Ensembl
Cytoband6p25.1
Allele length
AssemblyAllele length
hg38366879
hg19366878
hg18366878
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv600872
Supporting Variants
Samples
Known GenesFARS2, LYRM4, MIR3691, PPP1R3G, RPP40
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1048722
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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