A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462472



Internal ID15175851
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:88885058..88971430hg38UCSC Ensembl
Innerchr1:89350741..89437113hg19UCSC Ensembl
Innerchr1:89123329..89209701hg18UCSC Ensembl
Innerchr1:89062762..89149134hg17UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg3886373
hg1986373
hg1886373
hg1786373
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538627
Samples1780862212_A
Known GenesCCBL2, GTF2B
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)nsv462472
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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