A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001194



Internal ID19090411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:99223668..99311860hg38UCSC Ensembl
Innerchr2:99840131..99928323hg19UCSC Ensembl
Innerchr2:99206563..99294755hg18UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg3888193
hg1988193
hg1888193
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4030n100
Supporting Variantsnssv3580085
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)nsv1001194
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer