A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv515478



Internal ID16403450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:140412870..140420786hg38UCSC Ensembl
chrX:139495035..139502951hg19UCSC Ensembl
CytobandXq27.1
Allele length
AssemblyAllele length
hg387917
hg197917
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1n55
Supporting Variantsnssv650714
Samples4
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)nsv515478
Frequency
Sample Size740
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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