A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv455749



Internal ID15515814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:128724520..128782279hg38UCSC Ensembl
Innerchr12:129209065..129266824hg19UCSC Ensembl
Innerchr12:127775018..127832777hg18UCSC Ensembl
Innerchr12:127733945..127791704hg17UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg3857760
hg1957760
hg1857760
hg1757760
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533238
SamplesNINDS_29
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)nsv455749
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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