A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv465437



Internal ID15178816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:6797870..6971563hg38UCSC Ensembl
Innerchr8:6655391..6829085hg19UCSC Ensembl
Innerchr8:6642801..6816495hg18UCSC Ensembl
Innerchr8:6642801..6816495hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38173694
hg19173695
hg18173695
hg17173695
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv541234
SamplesHGDP00805
Known GenesDEFA10P, DEFA4, DEFA6, DEFA8P, DEFA9P, DEFB1, LOC100652791, XKR5
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)nsv465437
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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