A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3116430



Internal ID21299696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:7081584..7214406hg38UCSC Ensembl
InnerchrX:6999625..7132447hg19UCSC Ensembl
CytobandXp22.31
Allele length
AssemblyAllele length
hg38132823
hg19132823
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14104150
Samplessample89
Known GenesHDHD1, MIR4767
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3116430
Frequency
Sample Size467
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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