A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv650721



Internal ID16403448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:140412830..140420792hg38UCSC Ensembl
chrX:139494995..139502957hg19UCSC Ensembl
CytobandXq27.1
Allele length
AssemblyAllele length
hg387963
hg197963
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv515483
Supporting Variants
SamplesPAT473
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)nssv650721
Frequency
Sample Size740
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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