A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1060995



Internal ID18803526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:8904185..9029571hg38UCSC Ensembl
Innerchr17:8807502..8932888hg19UCSC Ensembl
Innerchr17:8748227..8873613hg18UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg38125387
hg19125387
hg18125387
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3096n100
Supporting Variantsnssv3560336
Samples
Known GenesNTN1, PIK3R5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1060995
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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