A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv463949



Internal ID15524014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:2208822..2263678hg38UCSC Ensembl
Innerchr1:2140261..2195117hg19UCSC Ensembl
Innerchr1:2130121..2184977hg18UCSC Ensembl
Innerchr1:2172423..2227279hg17UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3854857
hg1954857
hg1854857
hg1754857
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv539962
Samples1780862414_A
Known GenesC1orf86, SKI
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)nsv463949
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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