A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1062530



Internal ID19151749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:896810..1060857hg38UCSC Ensembl
Innerchr17:800050..964097hg19UCSC Ensembl
Innerchr17:746800..910847hg18UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38164048
hg19164048
hg18164048
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3079n100
Supporting Variantsnssv3560061
Samples
Known GenesABR, MIR3183, NXN, TIMM22
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1062530
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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