A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv464059



Internal ID15177438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:134365722..134423074hg38UCSC Ensembl
Innerchr6:134686860..134744212hg19UCSC Ensembl
Innerchr6:134728553..134785905hg18UCSC Ensembl
Innerchr6:134728553..134785905hg17UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg3857353
hg1957353
hg1857353
hg1757353
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv540050
Samples1780862310_A
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)nsv464059
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