A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1066648



Internal ID19155867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:22319095..22709212hg38UCSC Ensembl
Innerchr17:21845701..22208539hg19UCSC Ensembl
Innerchr17:21769828..22132666hg18UCSC Ensembl
Cytoband17p11.1
Allele length
AssemblyAllele length
hg38390118
hg19362839
hg18362839
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3132n100
Supporting Variantsnssv3561018
Samples
Known GenesFLJ36000, MTRNR2L1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1066648
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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