A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538966



Internal ID15505935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:35366022..35441182hg38UCSC Ensembl
Innerchr6:35333799..35408959hg19UCSC Ensembl
Innerchr6:35441777..35516937hg18UCSC Ensembl
Innerchr6:35441777..35516937hg17UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg3875161
hg1975161
hg1875161
hg1775161
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv462907
Supporting Variants
SamplesHGDP00286
Known GenesPPARD
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)nssv538966
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