A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv542n54



Internal ID22768437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:143538619..143787289hg38UCSC Ensembl
chr1:149029447..149281929hg19UCSC Ensembl
chr1:147296071..147548553hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38248671
hg19252483
hg18252483
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv547697, nsv547750, nsv547715, nsv547765
Samples
Known GenesLOC101929780, LOC388692, NBPF23
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv542n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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