A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004880



Internal ID18747411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:216984406..217033423hg38UCSC Ensembl
Innerchr1:217157748..217206765hg19UCSC Ensembl
Innerchr1:215224371..215273388hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3849018
hg1949018
hg1849018
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv577n100
Supporting Variantsnssv3705516, nssv3482832, nssv3491313
Samples
Known GenesESRRG
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1004880
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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