A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005118



Internal ID19094335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:99225488..99308080hg38UCSC Ensembl
Innerchr2:99841951..99924543hg19UCSC Ensembl
Innerchr2:99208383..99290975hg18UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg3882593
hg1982593
hg1882593
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4030n100
Supporting Variantsnssv3580087, nssv3580086
Samples
Known GenesLYG1, LYG2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1005118
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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