A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1078530



Internal ID18972659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:987811..994112hg38UCSC Ensembl
chr4:981599..987900hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg386302
hg196302
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3767147
SamplesKWP1
Known GenesIDUA, SLC26A1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1078530
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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