A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv466568



Internal ID15179947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:126660504..126700316hg38UCSC Ensembl
Innerchr9:129422783..129462595hg19UCSC Ensembl
Innerchr9:128462604..128502416hg18UCSC Ensembl
Innerchr9:126502337..126542149hg17UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg3839813
hg1939813
hg1839813
hg1739813
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv542083
Samples1780854418_A
Known GenesLMX1B
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)nsv466568
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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