A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1008599



Internal ID19097816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:6103342..6806185hg38UCSC Ensembl
Innerchr2:6243474..6946316hg19UCSC Ensembl
Innerchr2:6160925..6863767hg18UCSC Ensembl
Cytoband2p25.2
Allele length
AssemblyAllele length
hg38702844
hg19702843
hg18702843
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3711n100
Supporting Variantsnssv3576932
Samples
Known GenesLINC00487, MIR7515
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1008599
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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