A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv466783



Internal ID15526848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:190666650..190710720hg38UCSC Ensembl
Innerchr1:190635780..190679850hg19UCSC Ensembl
Innerchr1:188902403..188946473hg18UCSC Ensembl
Innerchr1:187367437..187411507hg17UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg3844071
hg1944071
hg1844071
hg1744071
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv542249
SamplesNINDS_94
Known GenesLOC440704
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)nsv466783
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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