A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457835



Internal ID15517900
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:53238476..53299659hg38UCSC Ensembl
Innerchr17:51315837..51377020hg19UCSC Ensembl
Innerchr17:48670836..48732019hg18UCSC Ensembl
Innerchr17:48670836..48732019hg17UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg3861184
hg1961184
hg1861184
hg1761184
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534951
SamplesNINDS_94
Known Genes
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)nsv457835
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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