A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1078515



Internal ID19326293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:44333419..44336120hg38UCSC Ensembl
chr22:44729299..44732000hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg382702
hg192702
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3770305
SamplesKWP1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1078515
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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