A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030254



Internal ID18772785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:5132027..5431352hg38UCSC Ensembl
Innerchr6:5132261..5431585hg19UCSC Ensembl
Innerchr6:5077260..5376584hg18UCSC Ensembl
Cytoband6p25.1
Allele length
AssemblyAllele length
hg38299326
hg19299325
hg18299325
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5912n100
Supporting Variantsnssv3654736
Samples
Known GenesFARS2, LYRM4, MIR3691
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1030254
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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