A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv466589



Internal ID8493636
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:129687477..129735271hg38UCSC Ensembl
Innerchr9:132449756..132497550hg19UCSC Ensembl
Innerchr9:131489577..131537371hg18UCSC Ensembl
Innerchr9:129529310..129577104hg17UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg3847795
hg1947795
hg1847795
hg1747795
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv542100
SamplesNINDS_210
Known GenesPRRX2
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)nsv466589
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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