A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1075778



Internal ID18976784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:85514316..85539917hg38UCSC Ensembl
chr1:85979999..86005600hg19UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg3825602
hg1925602
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3763727
SamplesKWP1
Known GenesDDAH1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1075778
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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