A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv543886



Internal ID15506640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:245787340..246065943hg38UCSC Ensembl
Innerchr1:245950642..246229245hg19UCSC Ensembl
Innerchr1:244017265..244295868hg18UCSC Ensembl
Innerchr1:242276683..242555286hg17UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38278604
hg19278604
hg18278604
hg17278604
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv468805
Supporting Variants
SamplesHGDP00537
Known GenesSMYD3
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)nssv543886
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