A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv466570



Internal ID15179949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:127504287..127547894hg38UCSC Ensembl
Innerchr9:130266566..130310173hg19UCSC Ensembl
Innerchr9:129306387..129349994hg18UCSC Ensembl
Innerchr9:127346120..127389727hg17UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg3843608
hg1943608
hg1843608
hg1743608
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv542085
SamplesHGDP00776
Known GenesFAM129B
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)nsv466570
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