A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv540123



Internal ID15502350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:167935400..168176147hg38UCSC Ensembl
Innerchr6:168336080..168576827hg19UCSC Ensembl
Innerchr6:168078929..168319676hg18UCSC Ensembl
Innerchr6:168154636..168395383hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38240748
hg19240748
hg18240748
hg17240748
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv464153
Supporting Variants
Samples1780854318_A
Known GenesFRMD1, HGC6.3, KIF25, KIF25-AS1, MLLT4
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)nssv540123
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