A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv464083



Internal ID15524148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:153456411..153489668hg38UCSC Ensembl
Innerchr6:153777546..153810803hg19UCSC Ensembl
Innerchr6:153819239..153852496hg18UCSC Ensembl
Innerchr6:153869660..153902917hg17UCSC Ensembl
Cytoband6q25.2
Allele length
AssemblyAllele length
hg3833258
hg1933258
hg1833258
hg1733258
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv784n27
Supporting Variantsnssv540071
SamplesHGDP01237
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)nsv464083
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