A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv324n100



Internal ID22786411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:148736158..148934526hg38UCSC Ensembl
chr1:144949963..145152745hg19UCSC Ensembl
chr1:143661320..143864102hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38198369
hg19202783
hg18202783
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1004608, nsv1012811, nsv1005041, nsv1009656
Samples
Known GenesLOC100288142, NBPF12, NBPF9, PDE4DIP, SEC22B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv324n100
Frequency
Sample Size11257
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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