A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv466442



Internal ID15526507
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:99026240..99054117hg38UCSC Ensembl
Innerchr9:101788522..101816399hg19UCSC Ensembl
Innerchr9:100828343..100856220hg18UCSC Ensembl
Innerchr9:98868077..98895954hg17UCSC Ensembl
Cytoband9q22.33
Allele length
AssemblyAllele length
hg3827878
hg1927878
hg1827878
hg1727878
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv541986
SamplesNINDS_198
Known GenesCOL15A1
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)nsv466442
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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