A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999059



Internal ID19158595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:99231427..99310471hg38UCSC Ensembl
Innerchr2:99847890..99926934hg19UCSC Ensembl
Innerchr2:99214322..99293366hg18UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg3879045
hg1979045
hg1879045
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4030n100
Supporting Variantsnssv3580091
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)nsv999059
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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