A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462783



Internal ID15522848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:102973239..103082941hg38UCSC Ensembl
Innerchr1:103438795..103548497hg19UCSC Ensembl
Innerchr1:103211383..103321085hg18UCSC Ensembl
Innerchr1:103150816..103260518hg17UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38109703
hg19109703
hg18109703
hg17109703
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv25n27
Supporting Variantsnssv538871
SamplesNINDS_160
Known GenesCOL11A1
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)nsv462783
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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