A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv537n54



Internal ID22768432
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:143538619..143594419hg38UCSC Ensembl
chr1:149029447..149089078hg19UCSC Ensembl
chr1:147296071..147355702hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3855801
hg1959632
hg1859632
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv547721, nsv547737, nsv547703, nsv547702, nsv547688, nsv547733
Samples
Known GenesLOC101929780
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv537n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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