A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv465632



Internal ID15179011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:32136294..32370410hg38UCSC Ensembl
Innerchr8:31993810..32227926hg19UCSC Ensembl
Innerchr8:32113352..32347468hg18UCSC Ensembl
Innerchr8:32113352..32347468hg17UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg38234117
hg19234117
hg18234117
hg17234117
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv541404
SamplesHGDP00654
Known GenesNRG1, NRG1-IT1
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)nsv465632
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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