A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv541623



Internal ID15507446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:140448395..140519958hg38UCSC Ensembl
Innerchr8:141458494..141530057hg19UCSC Ensembl
Innerchr8:141527676..141599239hg18UCSC Ensembl
Innerchr8:141527676..141599239hg17UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3871564
hg1971564
hg1871564
hg1771564
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv465951
Supporting Variants
SamplesHGDP00663
Known GenesCHRAC1, TRAPPC9
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)nssv541623
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