A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457941



Internal ID15171320
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:55290355..55358779hg38UCSC Ensembl
Innerchr2:55517491..55585915hg19UCSC Ensembl
Innerchr2:55370995..55439419hg18UCSC Ensembl
Innerchr2:55429142..55497566hg17UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg3868425
hg1968425
hg1868425
hg1768425
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535031
SamplesNINDS_145
Known GenesCCDC88A
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)nsv457941
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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