A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1077464



Internal ID19318239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:135801610..135808411hg38UCSC Ensembl
chr5:135137299..135144100hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg386802
hg196802
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3772325
SamplesKWP1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1077464
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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