A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461450



Internal ID15521515
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:47771291..47816912hg38UCSC Ensembl
Innerchr1:48236963..48282584hg19UCSC Ensembl
Innerchr1:48009550..48055171hg18UCSC Ensembl
Innerchr1:47948983..47994604hg17UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg3845622
hg1945622
hg1845622
hg1745622
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537836
Samples1780862021_A
Known GenesTRABD2B
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)nsv461450
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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