A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv465734



Internal ID15179113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:86701747..87889581hg38UCSC Ensembl
Innerchr8:87713975..88901809hg19UCSC Ensembl
Innerchr8:87783091..88970925hg18UCSC Ensembl
Innerchr8:87783091..88970925hg17UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg381187835
hg191187835
hg181187835
hg171187835
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv541484
SamplesNINDS_45
Known GenesCNBD1, CNGB3, DCAF4L2
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)nsv465734
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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