A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv954n27



Internal ID22767683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:135698139..135761806hg38UCSC Ensembl
chr9:138589985..138653652hg19UCSC Ensembl
chr9:137729806..137793473hg18UCSC Ensembl
chr9:135815930..135879597hg17UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg3863668
hg1963668
hg1863668
hg1763668
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv466667, nsv466666, nsv466665
SamplesHGDP00977, NINDS_60, HGDP01351
Known GenesKCNT1, SOHLH1
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)dgv954n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer