A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3765431



Internal ID19311332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:147279181..147285382hg38UCSC Ensembl
chrX:146360699..146366900hg19UCSC Ensembl
CytobandXq27.3
Allele length
AssemblyAllele length
hg386202
hg196202
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1077599
Supporting Variants
SamplesKWP1
Known GenesMIR514A1, MIR514A2, MIR514A3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nssv3765431
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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