A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv464226



Internal ID15177605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:170263653..170308522hg38UCSC Ensembl
Innerchr6:170572741..170617610hg19UCSC Ensembl
Innerchr6:170414666..170459535hg18UCSC Ensembl
Innerchr6:170490373..170535242hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg3844870
hg1944870
hg1844870
hg1744870
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv540171
Samples1780862019_A
Known GenesDLL1, FAM120B, FLJ38122
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)nsv464226
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