A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1075856



Internal ID18971530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:113446384..113447585hg38UCSC Ensembl
chr13:114100699..114101900hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg381202
hg191202
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3765429
SamplesKWP1
Known GenesADPRHL1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1075856
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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