A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538742



Internal ID15159980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:10449025..10839526hg38UCSC Ensembl
Innerchr6:10449258..10839759hg19UCSC Ensembl
Innerchr6:10557244..10947745hg18UCSC Ensembl
Innerchr6:10557244..10947745hg17UCSC Ensembl
Cytoband6p24.2
Allele length
AssemblyAllele length
hg38390502
hg19390502
hg18390502
hg17390502
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv462631
Supporting Variants
SamplesHGDP00542
Known GenesC6orf52, GCNT2, MAK, PAK1IP1, TMEM14B, TMEM14C
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)nssv538742
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