A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1065710



Internal ID18808241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:17424797..17488129hg38UCSC Ensembl
Innerchr17:17328111..17391443hg19UCSC Ensembl
Innerchr17:17268836..17332168hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3863333
hg1963333
hg1863333
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3560432
Samples
Known GenesMED9
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1065710
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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