A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3111294



Internal ID21294560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:155399134..155646144hg38UCSC Ensembl
InnerchrX:154628795..154875805hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg38247011
hg19247011
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14101849
Samplessample413
Known GenesF8A1, F8A2, F8A3, H2AFB1, H2AFB2, H2AFB3, MIR1184-1, MIR1184-2, MIR1184-3, TMLHE, TMLHE-AS1
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3111294
Frequency
Sample Size467
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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