A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv466640



Internal ID15526705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:134778156..134795468hg38UCSC Ensembl
Innerchr9:137670002..137687314hg19UCSC Ensembl
Innerchr9:136809823..136827135hg18UCSC Ensembl
Innerchr9:134895947..134913259hg17UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg3817313
hg1917313
hg1817313
hg1717313
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv542139
Samples1780862403_A
Known GenesCOL5A1
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)nsv466640
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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