A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv463976



Internal ID15524041
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:94517995..94665602hg38UCSC Ensembl
Innerchr6:95227713..95375320hg19UCSC Ensembl
Innerchr6:95284434..95432041hg18UCSC Ensembl
Innerchr6:95284434..95432041hg17UCSC Ensembl
Cytoband6q16.1
Allele length
AssemblyAllele length
hg38147608
hg19147608
hg18147608
hg17147608
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv539986
SamplesNINDS_147
Known Genes
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)nsv463976
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