A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv466071



Internal ID15526136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:2028757..2065892hg38UCSC Ensembl
Innerchr9:2028757..2065892hg19UCSC Ensembl
Innerchr9:2018757..2055892hg18UCSC Ensembl
Innerchr9:2018757..2055892hg17UCSC Ensembl
Cytoband9p24.3
Allele length
AssemblyAllele length
hg3837136
hg1937136
hg1837136
hg1737136
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv912n27
Supporting Variantsnssv541709
Samples1780862100_A
Known GenesSMARCA2
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)nsv466071
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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