A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv539181



Internal ID15503584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:73702325..74066188hg38UCSC Ensembl
Innerchr6:74412048..74775904hg19UCSC Ensembl
Innerchr6:74468769..74832624hg18UCSC Ensembl
Innerchr6:74468769..74832624hg17UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg38363864
hg19363857
hg18363856
hg17363856
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv463154
Supporting Variants
Samples1780862347_A
Known GenesCD109
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)nssv539181
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