A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv465736



Internal ID15179115
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:91110980..91161887hg38UCSC Ensembl
Innerchr8:92123208..92174115hg19UCSC Ensembl
Innerchr8:92192384..92243291hg18UCSC Ensembl
Innerchr8:92192384..92243291hg17UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg3850908
hg1950908
hg1850908
hg1750908
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv541485
SamplesHGDP01057
Known GenesLRRC69
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)nsv465736
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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