A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv465710



Internal ID15525775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:70033364..70049279hg38UCSC Ensembl
Innerchr8:70945599..70961514hg19UCSC Ensembl
Innerchr8:71108153..71124068hg18UCSC Ensembl
Innerchr8:71108153..71124068hg17UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg3815916
hg1915916
hg1815916
hg1715916
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv541461
SamplesHGDP00656
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)nsv465710
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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