A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462383



Internal ID15175762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:84869105..85128783hg38UCSC Ensembl
Innerchr1:85334788..85594466hg19UCSC Ensembl
Innerchr1:85107376..85367054hg18UCSC Ensembl
Innerchr1:85046809..85306487hg17UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg38259679
hg19259679
hg18259679
hg17259679
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538558
SamplesHGDP01029
Known GenesLPAR3, MCOLN2, MCOLN3, WDR63
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)nsv462383
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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