A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv455904



Internal ID15515969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:61309490..61379273hg38UCSC Ensembl
Innerchr13:61883623..61953406hg19UCSC Ensembl
Innerchr13:60781624..60851407hg18UCSC Ensembl
Innerchr13:60781624..60851407hg17UCSC Ensembl
Cytoband13q21.2
Allele length
AssemblyAllele length
hg3869784
hg1969784
hg1869784
hg1769784
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533358
Samples1780862312_A
Known Genes
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)nsv455904
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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