A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1077600



Internal ID19320533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:147409081..147412282hg38UCSC Ensembl
chrX:146490599..146493800hg19UCSC Ensembl
CytobandXq27.3
Allele length
AssemblyAllele length
hg383202
hg193202
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3769268
SamplesKWP1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1077600
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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