A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1n55



Internal ID22780909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:140411720..140420823hg38UCSC Ensembl
chrX:139493885..139502988hg19UCSC Ensembl
CytobandXq27.1
Allele length
AssemblyAllele length
hg389104
hg199104
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv515478, nsv515483, nsv515477, nsv515482, nsv515481
SamplesGIP124, GIP163, 4, 114, GIP024, GIP044, PAT473
Known Genes
MethodSequencing
AnalysisWe used a PCR-based sequencing method to detect deletions mediated by a human-specific palindromic sequence in 740 individuals of different ethnic origins. PCR primers were mapped to the human genome assembly (hg19).
PlatformNot reported
Comments
ReferenceZhu_et_al_2011
Pubmed ID21636067
Accession Number(s)dgv1n55
Frequency
Sample Size740
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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