A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3767147



Internal ID18958386
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 StatusS
Merged Variantsnsv1078530
Supporting Variants
SamplesKWP1
Known GenesIDUA, SLC26A1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nssv3767147
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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