A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv466073



Internal ID15526138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:2029018..2069765hg38UCSC Ensembl
Innerchr9:2029018..2069765hg19UCSC Ensembl
Innerchr9:2019018..2059765hg18UCSC Ensembl
Innerchr9:2019018..2059765hg17UCSC Ensembl
Cytoband9p24.3
Allele length
AssemblyAllele length
hg3840748
hg1940748
hg1840748
hg1740748
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv912n27
Supporting Variantsnssv541711
Samples1780862345_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)nsv466073
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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