A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv541443



Internal ID15512018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:55799154..55961458hg38UCSC Ensembl
Innerchr8:56711713..56874017hg19UCSC Ensembl
Innerchr8:56874267..57036571hg18UCSC Ensembl
Innerchr8:56874267..57036571hg17UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg38162305
hg19162305
hg18162305
hg17162305
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv465690
Supporting Variants
SamplesNINDS_186
Known GenesLYN, TGS1
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)nssv541443
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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