A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv248n54



Internal ID22768143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:40877936..40908771hg38UCSC Ensembl
chr1:41343608..41374443hg19UCSC Ensembl
chr1:41116195..41147030hg18UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg3830836
hg1930836
hg1830836
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv546091, nsv546094, nsv546096, nsv546095, nsv546092
SamplesNINDS_238, NINDS_18, HGDP00624, HGDP00614, 1780862443_A, 1780862346_A, 1798860336_A, NINDS_98, 1780862125_A, 1798860192_A, HGDP01153, HGDP00319, 1780854436_A
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv248n54
Frequency
Sample Size17421
Observed Gain17
Observed Loss0
Observed Complex0
Frequencyn/a


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