A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3768023



Internal ID19312571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:68964272..68966073hg38UCSC Ensembl
chr5:68260099..68261900hg19UCSC Ensembl
Cytoband5q13.1
Allele length
AssemblyAllele length
hg381802
hg191802
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1077989
Supporting Variants
SamplesKWP1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nssv3768023
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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