A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583192



Internal ID16370601
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:140553152..140592531hg38UCSC Ensembl
Innerchr2:141310721..141350100hg19UCSC Ensembl
Innerchr2:141027191..141066570hg18UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg3839380
hg1939380
hg1839380
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1151310
SamplesHGDP01075
Known GenesLRP1B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583192
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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