A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv466619



Internal ID15526684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:133650175..133663599hg38UCSC Ensembl
Innerchr9:136515297..136528721hg19UCSC Ensembl
Innerchr9:135505118..135518542hg18UCSC Ensembl
Innerchr9:133544851..133558275hg17UCSC Ensembl
Cytoband9q34.2
Allele length
AssemblyAllele length
hg3813425
hg1913425
hg1813425
hg1713425
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv542121
SamplesHGDP00961
Known GenesDBH, DBH-AS1, SARDH
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)nsv466619
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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