A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1066947



Internal ID19156166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:81094837..81181290hg38UCSC Ensembl
Innerchr17:79068637..79155090hg19UCSC Ensembl
Innerchr17:76683232..76769685hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3886454
hg1986454
hg1886454
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3567867
Samples
Known GenesAATK, AATK-AS1, BAIAP2, MIR1250, MIR3065, MIR338, MIR657
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1066947
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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