A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv466417



Internal ID15526482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:188766205..188901352hg38UCSC Ensembl
Innerchr1:188735336..188870483hg19UCSC Ensembl
Innerchr1:187001959..187137106hg18UCSC Ensembl
Innerchr1:185466993..185602140hg17UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg38135148
hg19135148
hg18135148
hg17135148
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv45n27
Supporting Variantsnssv541965
Samples1782681169_A
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)nsv466417
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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