A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056079



Internal ID19145298
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:22167253..22619743hg38UCSC Ensembl
Innerchr17:21693859..22119070hg19UCSC Ensembl
Innerchr17:21617989..22043197hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38452491
hg19425212
hg18425209
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3131n100
Supporting Variantsnssv3561007
Samples
Known GenesFAM27L, FLJ36000, MTRNR2L1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1056079
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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