A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538162



Internal ID15510665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:161629719..161691413hg38UCSC Ensembl
Innerchr4:162550871..162612565hg19UCSC Ensembl
Innerchr4:162770321..162832015hg18UCSC Ensembl
Innerchr4:162908476..162970170hg17UCSC Ensembl
Cytoband4q32.2
Allele length
AssemblyAllele length
hg3861695
hg1961695
hg1861695
hg1761695
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv461812
Supporting Variants
SamplesHGDP01279
Known GenesFSTL5
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)nssv538162
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