A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1078463



Internal ID19321095
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:94845654..94849155hg38UCSC Ensembl
chr2:95511399..95514900hg19UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg383502
hg193502
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3770170
SamplesKWP1
Known GenesANKRD20A8P
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1078463
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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