A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012243



Internal ID19101461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:216983658..217033423hg38UCSC Ensembl
Innerchr1:217157000..217206765hg19UCSC Ensembl
Innerchr1:215223623..215273388hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3849766
hg1949766
hg1849766
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv577n100
Supporting Variantsnssv3498713, nssv3705513
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)nsv1012243
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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