A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv460731



Internal ID15174110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:79536008..81276710hg38UCSC Ensembl
Innerchr3:79585158..81325861hg19UCSC Ensembl
Innerchr3:79667848..81408551hg18UCSC Ensembl
Innerchr3:79667848..81408551hg17UCSC Ensembl
Cytoband3p12.2
Allele length
AssemblyAllele length
hg381740703
hg191740704
hg181740704
hg171740704
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537252
SamplesNINDS_242
Known GenesROBO1
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)nsv460731
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer