A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv455693



Internal ID15169072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:95854713..95880912hg38UCSC Ensembl
Innerchr12:96248491..96274690hg19UCSC Ensembl
Innerchr12:94772622..94798821hg18UCSC Ensembl
Innerchr12:94750959..94777158hg17UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg3826200
hg1926200
hg1826200
hg1726200
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533201
SamplesNINDS_33
Known GenesCCDC38, SNRPF
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)nsv455693
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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