A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv465808



Internal ID15179187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:129951013..130106412hg38UCSC Ensembl
Innerchr8:130963259..131118658hg19UCSC Ensembl
Innerchr8:131032441..131187840hg18UCSC Ensembl
Innerchr8:131032441..131187840hg17UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg38155400
hg19155400
hg18155400
hg17155400
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv541540
SamplesHGDP01097
Known GenesASAP1, ASAP1-IT2, FAM49B, MIR5194
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)nsv465808
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