A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv455816



Internal ID15515881
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:133107735..133174703hg38UCSC Ensembl
Innerchr12:133684321..133751289hg19UCSC Ensembl
Innerchr12:132194394..132261362hg18UCSC Ensembl
Innerchr12:132294671..132361639hg17UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3866969
hg1966969
hg1866969
hg1766969
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv220n27
Supporting Variantsnssv533292
SamplesHGDP00798
Known GenesZNF10, ZNF891
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)nsv455816
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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