A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv539992



Internal ID15505277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:97805548..97880898hg38UCSC Ensembl
Innerchr6:98253424..98328774hg19UCSC Ensembl
Innerchr6:98360145..98435495hg18UCSC Ensembl
Innerchr6:98360145..98435495hg17UCSC Ensembl
Cytoband6q16.1
Allele length
AssemblyAllele length
hg3875351
hg1975351
hg1875351
hg1775351
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv463982
Supporting Variants
SamplesHGDP00092
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)nssv539992
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