A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3810n100



Internal ID22789897
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:50658747..50913090hg38UCSC Ensembl
chr2:50885885..51140228hg19UCSC Ensembl
chr2:50739389..50993732hg18UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg38254344
hg19254344
hg18254344
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1012620, nsv1009157, nsv1014217
Samples
Known GenesNRXN1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3810n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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