A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6866n54



Internal ID20140290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:50820175..51108720hg38UCSC Ensembl
chr2:51047313..51335858hg19UCSC Ensembl
chr2:50900817..51189362hg18UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg38288546
hg19288546
hg18288546
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv581862, nsv581859
Samples
Known GenesNRXN1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv6866n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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