A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14101652



Internal ID21278939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:53622534..53628838hg38UCSC Ensembl
InnerchrX:53649495..53655789hg19UCSC Ensembl
CytobandXp11.22
Allele length
AssemblyAllele length
hg386305
hg196295
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3113353
Supporting Variants
Samplessample275
Known GenesHUWE1
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nssv14101652
Frequency
Sample Size467
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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