A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1028560



Internal ID18771091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:55372925..55513315hg38UCSC Ensembl
Innerchr6:55237723..55378113hg19UCSC Ensembl
Innerchr6:55345682..55486072hg18UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg38140391
hg19140391
hg18140391
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5965n100
Supporting Variantsnssv3657492
Samples
Known GenesGFRAL, HMGCLL1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1028560
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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