A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv466714



Internal ID15526779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:5100663..5133258hg38UCSC Ensembl
Innerchr10:5142855..5175450hg19UCSC Ensembl
Innerchr10:5132855..5165450hg18UCSC Ensembl
Innerchr10:5132855..5165450hg17UCSC Ensembl
Cytoband10p15.1
Allele length
AssemblyAllele length
hg3832596
hg1932596
hg1832596
hg1732596
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv542190
SamplesNINDS_235
Known GenesAKR1C3
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)nsv466714
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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