A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv464250



Internal ID15524315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:168803155..168856794hg38UCSC Ensembl
Innerchr1:168772393..168826032hg19UCSC Ensembl
Innerchr1:167039017..167092656hg18UCSC Ensembl
Innerchr1:165504051..165557690hg17UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg3853640
hg1953640
hg1853640
hg1753640
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv540194
SamplesHGDP00251
Known Genes
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)nsv464250
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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