A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv460673



Internal ID15174052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:17566321..17592105hg38UCSC Ensembl
Innerchr1:17892816..17918600hg19UCSC Ensembl
Innerchr1:17765403..17791187hg18UCSC Ensembl
Innerchr1:17638122..17663906hg17UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3825785
hg1925785
hg1825785
hg1725785
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537212
SamplesHGDP00553
Known GenesARHGEF10L
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)nsv460673
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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