A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002169



Internal ID19091386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:99229843..99308080hg38UCSC Ensembl
Innerchr2:99846306..99924543hg19UCSC Ensembl
Innerchr2:99212738..99290975hg18UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg3878238
hg1978238
hg1878238
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4030n100
Supporting Variantsnssv3580088
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)nsv1002169
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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