A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3748n100



Internal ID20155364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:32245383..32318300hg38UCSC Ensembl
chr2:32470452..32543369hg19UCSC Ensembl
chr2:32323956..32396873hg18UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg3872918
hg1972918
hg1872918
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1004279, nsv1002120
Samples
Known GenesNLRC4, YIPF4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3748n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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