A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1064334



Internal ID19153553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:22188524..22720229hg38UCSC Ensembl
Innerchr17:21715130..22219556hg19UCSC Ensembl
Innerchr17:21639257..22143683hg18UCSC Ensembl
Cytoband17p11.1
Allele length
AssemblyAllele length
hg38531706
hg19504427
hg18504427
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3131n100
Supporting Variantsnssv3561013
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)nsv1064334
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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