A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457647



Internal ID15171026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:4102227..4170104hg38UCSC Ensembl
Innerchr17:4005521..4073398hg19UCSC Ensembl
Innerchr17:3952270..4020147hg18UCSC Ensembl
Innerchr17:3952270..4020147hg17UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3867878
hg1967878
hg1867878
hg1767878
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534786
Samples1782681317_A
Known GenesANKFY1, CYB5D2, ZZEF1
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)nsv457647
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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