A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542054



Internal ID15162642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:114145168..114171169hg38UCSC Ensembl
Innerchr9:116907448..116933449hg19UCSC Ensembl
Innerchr9:115947269..115973270hg18UCSC Ensembl
Innerchr9:113987002..114013003hg17UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg3826002
hg1926002
hg1826002
hg1726002
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv466527
Supporting Variants
SamplesHGDP00976
Known GenesCOL27A1
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)nssv542054
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