A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv997436



Internal ID19156972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:99223668..99300423hg38UCSC Ensembl
Innerchr2:99840131..99916886hg19UCSC Ensembl
Innerchr2:99206563..99283318hg18UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg3876756
hg1976756
hg1876756
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4030n100
Supporting Variantsnssv3580081
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)nsv997436
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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