A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461727



Internal ID15175106
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:2151050..2251031hg38UCSC Ensembl
Innerchr1:2082489..2182470hg19UCSC Ensembl
Innerchr1:2072349..2172330hg18UCSC Ensembl
Innerchr1:2114651..2214632hg17UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3899982
hg1999982
hg1899982
hg1799982
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538084
Samples1780862101_A
Known GenesC1orf86, PRKCZ, 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)nsv461727
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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